Phenotype #0000284152

Individual ID 00390615
Associated disease MDDG
Phenotype details muscle-eye-brain disease; 1y-sit supported; contractures knee; intellectual disability; no seizures; esotropia; CK level 3305 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia
Diagnosis/Initial congenital muscular dystrophy, mental retardation
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 2y1m (2 years, 1 month)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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