Phenotype #0000317685

Individual ID 00426530
Associated disease MDC
Phenotype details 6.3y-died severe pneumonia; 6m-head control, 8m-sit; no motor regression; contractures knee, elbow, hip; 6y-scoliosis; recurrent respiratory tract infection, 6y-severe pneumonia; ECG normal; normal ultrasonic cardiogram; no feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 6y-91 U/L; EMG myopathic changes, reduced motor nerve conduction velocity; MRI brain 6.1y-abnormal white matter hyperintensities
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Age/Examination 6.3y
Age/Diagnosis -
Age/Onset 1d
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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