Disease #06636 (PCH1D (hypoplasia, pontocerebellar, type 1D), OMIM:618065)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	PCH1D
Name	hypoplasia, pontocerebellar, type 1D
OMIM ID	618065
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	EXOSC9
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	2022-10-17 11:07:50 +02:00 (CEST)

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