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: benign epilepsy with centrotemporal spikes
Accession: DOID:3329
browse the term
Definition: A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. (DO)
Synonyms: exact_synonym: BCECTS; BECTS; Benign Childhood Epilepsy With Centro Temporal Spikes; Benign Epilepsy Of Childhood With Centrotemporal Spikes; Benign Rolandic Epilepsy; Benign Rolandic Epilepsy of Childhood; Centralopathic Epilepsy; Centrotemporal Epilepsies; Centrotemporal Epilepsy; ECT; Rolandic Epilepsies; Rolandic Epilepsy; Rolands Epilepsy; Sylvian Epilepsy; benign childhood epilepsy with centrotemporal spike; centralopathic epilepsies; sylvan seizures; temporal-central focal epilepsy
primary_id: MESH:D019305
alt_id: OMIM:117100
xref: GARD:10287 ; ORDO:1945
For additional species annotation, visit the
Alliance of Genome Resources .
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26075876 PMID:26467025 PMID:28492532 PMID:29140481 PMID:29358611 PMID:29692406 More...
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Cntnap2
contactin associated protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201 More...
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Cpa6
carboxypeptidase A6
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 More...
NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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Cstb
cystatin B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 More...
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28166811 PMID:28492532 PMID:29358611 More...
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 More...
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rolandic epilepsy
CTD ClinVar
PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:27839871 PMID:28102150 PMID:28109652 PMID:28242877 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 More...
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Ier3ip1-ps1
immediate early response 3 interacting protein 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:29358611
NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Benign Rolandic epilepsy
ClinVar
PMID:18625963
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kcnq3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More...
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Prickle2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824
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Rbfox1
RNA binding fox-1 homolog 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24039908 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 More...
NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
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Rbfox3
RNA binding fox-1 homolog 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935
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Reln
reelin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:10973257 PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28492532 PMID:29358611 More...
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958 More...
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611 PMID:29758173
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
G
Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18414213 PMID:20478850 PMID:23895530 PMID:24776970 PMID:24848745 PMID:25250524 PMID:25741868 PMID:28492532 PMID:29358611 More...
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc6a1
solute carrier family 6 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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Snip1
Smad nuclear interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:31515523 More...
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Strada
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Wwox
WW domain-containing oxidoreductase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Arl13a
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
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Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition
OMIM CTD ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 More...
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
G
Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
G
Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
G
Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24387994 PMID:25741868 PMID:26467025 PMID:27281533 PMID:28492532 PMID:30108545 PMID:30311386 PMID:31112829 PMID:31257402 PMID:31618474 PMID:31922275 PMID:32581362 PMID:33229591 More...
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
syndrome
10886
electroclinical syndrome
1353
absence epilepsy
247
childhood electroclinical syndrome
114
benign epilepsy with centrotemporal spikes
50
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
15
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
0
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
1
Path 2
disease
18969
disease of anatomical entity
18248
nervous system disease
14089
central nervous system disease
12429
brain disease
11667
epilepsy
2809
electroclinical syndrome
1353
absence epilepsy
247
childhood electroclinical syndrome
114
benign epilepsy with centrotemporal spikes
50
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
15
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
0
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
1