Phenotype #0000288735

Individual ID	00395537
Associated disease	MD
Phenotype details	developmental delay; OFC <P3; max. mobility sit without support; joint contractures; speech single word; intellectual disability; raised CK 3,609-5,200IU/L; no cardiovascular involvement; no ocular involvement; EMG myogenic change; muscle biopsy dystrophic; MRI brain cerebellar dysplasia, brainstem dysplasia
Diagnosis/Initial	MEB-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD1E
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	developmental delay
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-07 17:31:19 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD