Global Variome shared LOVD

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Phenotype #0000359784 Individual ID 00475070 Associated disease NMD Diagnosis/Initial milder Ullrich congenital muscular dystrophy Diagnosis/Definite UCMD1B Phenotype details see paper; ..., perinatal hypotonia; 1y8m-walk; maximal motor ability walk; 6y-loss ambulation; joint retractions; distal hyperextensibility, no congenital dislocation hip; spinal deformities; follicular hyperkeratosis; normal lung function; disease course slowly progressive; normal creatine kinase level; muscle biopsy dystrophic Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset perinatal hypotonia Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-31 19:49:27 +02:00 (CEST) Date last edited N/A

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