Phenotype #0000085601

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00107840
Associated disease	PCH1B
Phenotype details	floppy at birth; ocular motor apraxia; progressive muscle wasting, distal contractures; progressive microcephaly; growth retardation; global developmental delay; never reached any motor milestone or spoke; Pontocerebellar hypoplasia type 1 (PCH1)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	18y (18 years)
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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