Phenotype #0000284106

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00390569
Associated disease	MDDG
Phenotype details	muscle-eye-brain disease; 3y6m-walk; intellectual disability; no seizures; CK level 4757 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; EGC normal; UCG normal
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	11y1m (11 years, 1 month)
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

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