Global Variome shared LOVD

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

Phenotype #0000317645 Individual ID 00426490 Associated disease MDC Phenotype details 9m-head control, 1y-sit; no motor regression; contractures knee, hip; no spinal deformity; no feeding difficulty; intellectual disability, no seizures; raised serum CK highest 1.5y-1807 U/L; EMG myopathic changes, reduced motor nerve conduction velocity; MRI brain abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 1.3y Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia, weak cry 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.