Disease #02676 (PCH1A (hypoplasia, pontocerebellar, type 1A), OMIM:607596)

Official abbreviation PCH1A
Name hypoplasia, pontocerebellar, type 1A
OMIM ID 607596
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene VRK1
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Disease features -
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Individuals

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00081058 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - PCH1A Pontocerebellar hypoplasia type 1A (OMIM:607596) VRK1 VRK1 1 1 Daniel Trujillano
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