Phenotype #0000284145

Individual ID	00390608
Associated disease	MDDG
Phenotype details	deceased; Fukuyama congenital muscular dystrophy; 1y-sit; contractures ankle, knee; intellectual disability; seizures; no eye movement; CK level 7765-8718 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; EGC normal; UCG normal
Diagnosis/Initial	congenital muscular dystrophy, mental retardation
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	4y4m (4 years, 4 months)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-10 16:44:31 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD