Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000221965 Individual ID 00288228 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Unilateral flexion elbow contracture, bilateral knee flexion contractures, bilateral equinus contractures, cryptorchidism, fatty replacement of skeletal muscle, hypotonia, loss of ability to walk in early childhood, motor delay, muscle fiber hypertrophy, atrophic myofibers, muscle weakness, myopathy, ventriculomegaly Inheritance Isolated (sporadic) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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