Global Variome shared LOVD

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Phenotype #0000284128 Individual ID 00390591 Associated disease MDDG Phenotype details congenital muscular dystrophy, mental retardation; 1y8m-sit; contractures ankle, knee; intellectual disability; no seizures; no eye involvement; CK level 3600-5200 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; muscle biopsy muscular dystrophy; EGC normal; UCG normal Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 11y2m (11 years, 2 months) Age/Diagnosis - Age/Onset 3m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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