Global Variome shared LOVD

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

Phenotype #0000317745 Individual ID 00426590 Associated disease MDC Phenotype details 4m-head control, 6m-sit, 1.5y-walk, 17y-run; no motor regression; no contractures; no spinal deformity; 16y-recurrent respiratory tract infection; ECG normal; no feeding difficulty; no regular rehabilitation; no intellectual disability, 11y-epilepsy; raised serum CK highest 13.2y-442 U/L; MRI brain 13.2y-abnormal white matter hyperintensities, occipital pachygyria Diagnosis/Initial limb-girdle muscular dystrophy Diagnosis/Definite LGMDR23 Inheritance Familial, autosomal recessive Age/Examination 18.2y Age/Diagnosis - Age/Onset 13y Phenotype/Onset epilepsy 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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