Phenotype #0000043166

Individual ID 00056478
Associated disease MDC
Phenotype details dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; no ophthalmologic findings; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 720 max U/l; max motor ability s2y
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 4m
Phenotype/Onset poor head control
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 2013-07-23 22:58:32 +02:00 (CEST)
Date last edited N/A

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