Global Variome shared LOVD

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Phenotype #0000358429 Individual ID 00473634 Associated disease MDC Phenotype details Developmental delay, motor; Once history of febrile convulsion; Mild mental retardation; Joint laxity; Hypotonia, generalized; Cataract; Cerebellar atrophy; Ataxia; Muscle biopsy: myopathic atrophy with rare necrosis/ regeneration associated with multiple red-rimmed vacuoles and endomysial fibrosis as well as adipose tissue replacement suggestive of myofibrillar myopathies. Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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