Phenotype #0000284143

Individual ID 00390606
Associated disease MDDG
Phenotype details deceased; Fukuyama congenital muscular dystrophy; 5y-sit; contractures knee; intellectual disability; seizures; no eye movement; CK level 648-11600 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; IHC no DAG
Diagnosis/Initial congenital muscular dystrophy, mental retardation
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 13y3m (13 years, 3 months)
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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