Phenotype #0000284105

Individual ID 00390568
Associated disease MDDG
Phenotype details muscle-eye-brain disease; 4y-walk; contractures ankle; intellectual disability; no seizures; Optic nerve atrophy; CK level 2174 IU/L;; EMG neurogenic; IHC reduced DAG; ECG sinus tachycardia; UCG slight enlargement of left heart
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 15y (15 years)
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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