Phenotype #0000041345

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054666
Associated disease	MDC
Phenotype details	gross motor delay, walked with support at 4y, ataxia, congenital cataracts, cerebellar hypoplasia and atrophy; CPK mild elevation (215-309); histology non-specific
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	-
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2015-11-08 12:06:11 +01:00 (CET)
Date last edited	N/A

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