Phenotype #0000289115

Individual ID 00395953
Associated disease BMD/DMD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m-
Inheritance Familial, autosomal recessive
Age/Examination 00y22m (22 months)
Age/Diagnosis -
Age/Onset 00y04m
Phenotype/Onset epileptic spasms
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 2021-12-09 13:37:46 +01:00 (CET)
Date last edited 2021-12-09 13:44:53 +01:00 (CET)

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