Global Variome shared LOVD

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

Phenotype #0000317674 Individual ID 00426519 Associated disease MDC Phenotype details no head control; no motor regression; contractures knee, elbow, ankle; no spinal deformity; 3y-4y-recurrent respiratory tract infection; difficulty chewing; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 2m-8010 U/L; MRI brain 5m-normal; pectus carinatum Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 5.1y Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-01 16:50:45 +01:00 (CET) Date last edited N/A

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