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 InternationalCreative Commons License
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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