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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Muscle Hypotonia
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Accession:DOID:9005603 term browser browse the term
Definition:A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Synonyms:exact_synonym: Decreased Muscle Tone;   Flaccid Muscle Tone;   Floppy Muscle;   Floppy Muscles;   Hypomyotonia;   Hypotonia;   Hypotonias, Unilateral;   Muscle Flaccidity;   Muscle Hypotony;   Muscle Tone Atonic;   Muscle Tone Atonics;   Muscle Tone Poor;   Muscular Flaccidities;   Muscular Flaccidity;   Muscular Hypotonia;   Neonatal Hypotonia;   Neonatal Hypotonias
 narrow_synonym: FACIAL HYPOTONIA;   GENERALIZED HYPOTONIA;   Unilateral Hypotonia
 primary_id: MESH:D009123
For additional species annotation, visit the Alliance of Genome Resources.



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Muscle Hypotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Acot1 acyl-CoA thioesterase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Muscular hypotonia
ClinVar Annotator: match by term: poor muscle tone
ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr12:46,417,761...46,451,304
Ensembl chr12:46,417,759...46,500,514
JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32581362 NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:10995512 PMID:21505078 PMID:22129561 PMID:25741868 PMID:28492532 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:8364588 PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Generalized hypotonia
ClinVar Annotator: match by term: Neonatal hypotonia
ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO RGD PMID:11230174 RGD:734884 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:22544365 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24524299 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:26437029 PMID:32581362 NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
JBrowse link
G Heatr4 HEAT repeat containing 4 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 6:103,574,360...103,611,578
Ensembl chr 6:103,574,366...103,612,100
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 PMID:31513310 PMID:31600826 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:26168268 PMID:30755392 PMID:33106617 NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More... NCBI chr18:27,884,618...27,905,500
Ensembl chr18:27,884,556...27,905,513
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25558065 PMID:27311568 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:25741868 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:19563458 PMID:20452746 PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Unilateral Hypotonia ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar PMID:19020799 PMID:19953625 PMID:21387466 PMID:21784453 PMID:23487764 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Sp9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Muscular hypotonia ClinVar NCBI chr 3:58,146,826...58,149,357
Ensembl chr 3:58,146,826...58,149,357
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Neonatal hypotonia ClinVar NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:20232449 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26729329 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hypotonia ClinVar NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: poor muscle tone ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Facial hypotonia ClinVar NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hypotonia ClinVar PMID:25741868 NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Generalized hypotonia ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
JBrowse link
3-M syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome
CTD
ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21548126 PMID:23900270 More... NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome OMIM
ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy OMIM
ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET OMIM
ClinVar
PMID:33783914 NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
autosomal recessive intellectual developmental disorder 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 ClinVar
OMIM
NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome OMIM
ClinVar
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism ClinVar PMID:25741868 PMID:31278393 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
JBrowse link
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome OMIM
ClinVar
PMID:25741868 PMID:32105419 NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:28492532 PMID:31448845 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities ClinVar
OMIM
PMID:25741868 PMID:33217309 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
Cohen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
G Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,116,758...69,224,490
Ensembl chr 7:69,116,761...69,224,903
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,167,499...68,174,042
Ensembl chr 7:68,166,323...68,174,148
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies OMIM
ClinVar
PMID:17067864 PMID:25741868 PMID:30827498 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
DeSanto-Shinawi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM
ClinVar
PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301
JBrowse link
developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
Developmental Delay, Hypotonia, and Impaired Language term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language OMIM
ClinVar
PMID:25741868 PMID:28135719 PMID:35395208 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33909990 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:31412107 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
JBrowse link
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc7 anaphase promoting complex subunit 7 ISO ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome ClinVar
OMIM
PMID:34942119 NCBI chr12:34,131,214...34,160,819
Ensembl chr12:34,133,429...34,160,005
JBrowse link
FG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
RGD
PMID:6711603 PMID:8279489 PMID:10405444 PMID:10982179 PMID:16199547 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar
PMID:18414213 PMID:19200522 PMID:19377476 PMID:20029458 PMID:25741868 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
fumarase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:15879500 PMID:19763152 PMID:20307669 PMID:21398687 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency OMIM
ClinVar
PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9536098 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Rgs7 regulator of G-protein signaling 7 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:28492532 NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
glycogen storage disease IXa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP
ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2
DNA:mutations:multiple
DNA:missense mutations:multiple
OMIM
ClinVar
RGD
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
glycogen storage disease IXb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkb phosphorylase kinase regulatory subunit beta ISO ClinVar Annotator: match by term: Glycogen storage disease IXb OMIM
ClinVar
PMID:9215682 PMID:9326319 PMID:9402963 PMID:12825073 PMID:16199547 More... NCBI chr19:21,013,719...21,210,672
Ensembl chr19:21,025,733...21,210,633
JBrowse link
glycogen storage disease IXc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc OMIM
ClinVar
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd OMIM
ClinVar
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9731190 PMID:12825073 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18h18orf32 similar to human chromosome 18 open reading frame 32 ISO OMIM NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787
JBrowse link
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy OMIM
ClinVar
PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
JBrowse link
hypotonia, ataxia, and delayed development syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome OMIM
ClinVar
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 More... NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar
PMID:25741868 PMID:26358778 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
OMIM
ClinVar
RGD
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29610177 More... RGD:12914762, RGD:12911215 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder
ClinVar
OMIM
RGD
PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 More... RGD:11528248 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities OMIM
ClinVar
PMID:25741868 PMID:30905399 NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar
PMID:25741868 PMID:34314705 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
JBrowse link
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31575858 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
OMIM
ClinVar
RGD
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:24884629 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:9054934 PMID:9295268 PMID:9973280 PMID:10958763 PMID:11017087 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11537352, RGD:7246903 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:20683928 PMID:25741868 PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar
PMID:25741868 PMID:30740830 PMID:32754646 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:26394714 PMID:27038415 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,052,448...23,083,691
Ensembl chr13:23,052,448...23,083,691
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,118,584...23,150,760
Ensembl chr13:23,118,584...23,150,760
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar
PMID:16199547 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia OMIM
ClinVar
PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:33537682 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia OMIM
ClinVar
PMID:25741868 PMID:29302074 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements OMIM
ClinVar
PMID:25741868 PMID:30929742 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:34186028 NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM
ClinVar
PMID:25741868 PMID:32220290 PMID:33392778 NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES OMIM
ClinVar
PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ClinVar
OMIM
PMID:27431290 PMID:33420346 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:31353023 PMID:33665635 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES OMIM
ClinVar
PMID:25741868 PMID:28940097 PMID:29808498 PMID:29987015 PMID:30520571 More... NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities ClinVar
OMIM
PMID:25741868 PMID:28135719 PMID:33473207 PMID:34819662 NCBI chr 4:16,813,941...16,898,111
Ensembl chr 4:16,814,001...16,896,417
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar
PMID:25741868 PMID:32220291 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar
PMID:25741868 PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar
PMID:7679508 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM
ClinVar
PMID:25741868 PMID:28195318 PMID:28492532 PMID:29130632 PMID:30976111 NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080
JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM
ClinVar
PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities OMIM
ClinVar
PMID:25741868 PMID:27435318 PMID:28097321 PMID:28492532 PMID:32286009 NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar
PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:31571209 More... NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
JBrowse link
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal OMIM
ClinVar
PMID:25741868 PMID:29053797 PMID:29053800 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar
PMID:25741868 PMID:27666369 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
RADIO-TARTAGLIA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: RADIO-TARTAGLIA SYNDROME ClinVar
OMIM
PMID:25741868 PMID:33596411 NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome OMIM
ClinVar
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr18:6,122,390...6,316,434
Ensembl chr18:6,122,390...6,317,393
JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM
ClinVar
PMID:24907849 PMID:32737394 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou3f3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: Snijders blok-fisher syndrome OMIM
ClinVar
PMID:25741868 PMID:30712878 PMID:31303265 NCBI chr 9:44,945,872...44,948,986
Ensembl chr 9:44,945,872...44,948,992
JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive OMIM
ClinVar
PMID:25741868 PMID:31314961 PMID:31332433 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
Tessadori-van Haaften Neurodevelopmental Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H4c3 H4 clustered histone 3 ISO ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 OMIM
ClinVar
PMID:15808514 PMID:19818714 PMID:25741868 PMID:28920961
Three M Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3M syndrome 1 OMIM
ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 More... NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: Three M syndrome 2 ClinVar PMID:19481195 PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 More... NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 OMIM
ClinVar
PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 More... NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
Three M Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: 3M syndrome 3 OMIM
ClinVar
PMID:21737058 PMID:25741868 PMID:28492532 PMID:28675896 NCBI chr 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
JBrowse link
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:34102099 NCBI chr19:37,744,666...37,831,131
Ensembl chr19:37,744,633...37,829,167
JBrowse link
WHITE-KERNOHAN SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO ClinVar Annotator: match by term: WHITE-KERNOHAN SYNDROME OMIM
ClinVar
PMID:25741868 PMID:33743206 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Pathological Conditions, Signs and Symptoms 11356
      Signs and Symptoms 7293
        Neurologic Manifestations 6217
          Neuromuscular Manifestations 541
            Muscle Hypotonia 216
              3-M syndrome + 4
              ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
              Al-Raqad Syndrome 1
              Alazami-Yuan Syndrome 2
              Allan-Herndon-Dudley syndrome 1
              Atonic-Astatic Syndrome of Foerster 0
              BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME 1
              Birk-Barel syndrome 2
              Carnitine Acetyltransferase Deficiency 1
              Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 1
              Cohen syndrome 37
              Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
              Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
              DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
              De Hauwere syndrome 2
              DeSanto-Shinawi syndrome 1
              Der Kaloustian Mcintosh Silver Syndrome 0
              Developmental Delay, Hypotonia, and Impaired Language 1
              Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
              Emanuel Syndrome 0
              Ethanolaminosis 0
              FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME 1
              FG syndrome + 5
              GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
              German Syndrome 0
              Glycosylphosphatidylinositol Biosynthesis Defect 25 1
              Grubben de Cock Borghgraef Syndrome 0
              HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
              Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
              Hypotonia, Seizures, and Precocious Puberty 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
              INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
              Joubert syndrome 10 1
              Joubert syndrome 3 2
              Joubert syndrome 5 3
              Ketoadipicaciduria 0
              Kilquist Syndrome 1
              Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
              NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
              NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES 1
              NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
              Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
              Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL 1
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Qazi Markouizos syndrome 0
              RADIO-TARTAGLIA SYNDROME 1
              SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Snijders Blok-Fisher Syndrome 1
              Tessadori-van Haaften Neurodevelopmental Syndrome 1 1
              USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT 1
              Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
              WHITE-KERNOHAN SYNDROME 1
              autosomal recessive intellectual developmental disorder 73 1
              combined oxidative phosphorylation deficiency 3 2
              congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
              fumarase deficiency 9
              glycogen storage disease IX + 4
              hypotonia, ataxia, and delayed development syndrome 1
              hypotonia-cystinuria syndrome 4
              intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
              multiple congenital anomalies-hypotonia-seizures syndrome + 21
              neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
              osteosclerotic metaphyseal dysplasia 1
              scalp-ear-nipple syndrome 1
paths to the root