Phenotype #0000331983

Individual ID 00442636
Associated disease NMD
Diagnosis/Initial Congenital myopathy, muscle hypotrophy of legs
Diagnosis/Definite -
Phenotype details Arthrogryposis multiplex congenital with oligohydramnios, postnatal hip luxation, contractures of knees, mild scoliosis, genu valgus, limb-gridle and axial weakness; muscle biopsy: type 1 fiber size predominance and presence of internal nuclei; CK = 95 U/l
Inheritance Unknown
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
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 2023-11-23 18:48:51 +01:00 (CET)
Date last edited N/A

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