Phenotype #0000317755

Individual ID 00426600
Associated disease MDC
Phenotype details 15y6m-died severe pneumonia; 3m-head control, 1y-sit; no motor regression; contractures knee, ankle, elbow; 10y-scoliosis; recurrent respiratory tract infection; ECG normal; normal ultrasonic cardiogram; difficulty chewing; no regular rehabilitation; intellectual disability, 13y-epilepsy
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Age/Examination 15.5y
Age/Diagnosis -
Age/Onset 6m
Phenotype/Onset muscle weakness, hypotonia
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 2022-12-01 16:50:45 +01:00 (CET)
Date last edited N/A

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