Global Variome shared LOVD

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

Phenotype #0000317667 Individual ID 00426512 Associated disease MDC Phenotype details 4y-died severe pneumonia; no head control; recurrent respiratory tract infection; 1d-feeding difficulty; no intellectual disability, no seizures; raised serum CK highest 5m-1552 U/L; MRI brain abnormal white matter hyperintensities Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 4.0y Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia, weak cry, feeding difficulty 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.