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: Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Accession: DOID:9002795
browse the term
Definition: A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)
Synonyms: exact_synonym: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
primary_id: OMIM:615760
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Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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Ccdc12
coiled-coil domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Ccdc51
coiled-coil domain containing 51
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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Ccr1
C-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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Ccrl2
C-C motif chemokine receptor like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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Celsr3
cadherin, EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cripto
cripto, EGF-CFC family member
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
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Cxcr6
C-X-C motif chemokine receptor 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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Dalrd3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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Elp6
elongator acetyltransferase complex subunit 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067
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Fbxw12
F-box and WD repeat domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
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Fyco1
FYVE and coiled-coil domain autophagy adaptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
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Klhl18
kelch-like family member 18
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Limd1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714
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Lrrc2
leucine rich repeat containing 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
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Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Lztfl1
leucine zipper transcription factor-like 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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Map4
microtubule-associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362
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Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,098...109,264,188
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Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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Nbeal2
neurobeachin-like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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Nckipsd
NCK interacting protein with SH3 domain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
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Ndufaf3
NADH:ubiquinone oxidoreductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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Nme6
NME/NM23 nucleoside diphosphate kinase 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
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P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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Pfkfb4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027
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Prkar2a
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802
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Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Ptpn23
protein tyrosine phosphatase, non-receptor type 23
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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Qars1
glutaminyl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:25741905 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33256324 More...
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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Rtp3
receptor (chemosensory) transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699
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Sacm1l
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413
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Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408
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Slc25a20
solute carrier family 25 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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Slc26a6
solute carrier family 26 member 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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Slc6a20a
solute carrier family 6 member 20a
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
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Smarcc1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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Spink8
serine peptidase inhibitor, Kazal type 8
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
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Tma7
translation machinery associated 7 homolog
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
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Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
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Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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Uqcrc1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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Xcr1
X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226
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