Global Variome shared LOVD

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Phenotype #0000357755 Individual ID 00472960 Associated disease MD Phenotype details Developmental delay, mild; Proximal muscle weakness with mild wasting; Fasciculation of the pectoralis major; Prominent abdomen; Flat feet; Prominent Calcaneus; Round face; Short philtrum; Short nose; Anteverted nares; Prominent ears; Open mouth; Prominent and large teeth. Muscle biopsy revealed muscular dystrophy and EMG-NCV findings showed generalized severe sensory motor axonal neuropathy and myopathic changes without spontaneous activity and no conduction block or demyelination Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 8y (8 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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