Phenotype #0000082226

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104285
Associated disease	CMYO4A;CFTD
Phenotype details	gross motor delay, deterioration with loss of ambulation, severe scoliosis; normal CK
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CFTD
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	00y08m
Phenotype/Onset	-
Protein	WB SEPN1 normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-09-19 21:01:10 +02:00 (CEST)
Date last edited	2019-10-11 13:05:40 +02:00 (CEST)

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