Phenotype #0000284113

Individual ID 00390576
Associated disease MDDG
Phenotype details muscle-eye-brain disease; 1y-sit; contractures ankle, knee; scoliosis; intellectual disability; no seizures; Left esotropia and optic nerve atrophy; CK level 9418 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 7y8m (7 years, 8 months)
Age/Diagnosis -
Age/Onset 3m
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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