Global Variome shared LOVD

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

Phenotype #0000323910 Individual ID 00433435 Associated disease MDC1A Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Phenotype details Motor delay Elevated circulating creatine kinase concentration Proximal muscle weakness in lower limbs (HP:0008994) Age/Examination 02y (2 years) Age/Diagnosis 02y Age/Onset 00y03m Phenotype/Onset Weak cry (HP:0001612), hypotonia (HP:0001252) Protein - Owner name Nguyen Hoang Database submission license No license selected Created by Nguyen Hoang Date created 2023-03-09 03:33:12 +01:00 (CET) Date last edited 2023-03-09 14:57:09 +01:00 (CET)

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