Phenotype #0000085599

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00107838
Associated disease	PCH1B
Phenotype details	Pontocerebellar hypoplasia type 1 (PCH1), seen at 3m
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	03m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Gerard C.P. Schaafsma
Date created	2012-06-01 11:29:22 +02:00 (CEST)
Date last edited	N/A

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