Phenotype #0000317639

Individual ID 00426484
Associated disease MDC
Phenotype details 6m-head control; no motor regression; contractures knee, ankle; no spinal deformity; no respiratory involvement; ECG normal; ultrasonic cardiogram 1m-atrial septal defect; 1d-feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 3d-26570 U/L; MRI brain 5d-normal
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Age/Examination 8m
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset muscle weakness, hypotonia, weak cry, feeding difficulty
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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