Disease #04106 (PCH2E (hypoplasia, pontocerebellar, type 2e (PCH2E)), OMIM:615851)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	PCH2E
Name	hypoplasia, pontocerebellar, type 2e (PCH2E)
OMIM ID	615851
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	VPS53
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-10-06 16:41:13 +02:00 (CEST)

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