Phenotype #0000350262

Individual ID 00464200
Associated disease MD
Phenotype details see paper; ..., no hospitalisation neonatal pathology; delayed motor development; large joint contractures; still ambulamt; no intellectual disability; creatine kinase level 919 U/L; MRI brain periventricular leukopathy; merosin-deficiency
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDC1A
Age/Examination -
Age/Diagnosis 8y
Age/Onset 1d
Phenotype/Onset -
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 2025-02-24 19:36:55 +01:00 (CET)
Date last edited 2025-02-24 19:45:44 +01:00 (CET)

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