Phenotype #0000353431

Global Variome shared LOVD

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

Individual ID	00468279
Associated disease	MD
Phenotype details	see paper ..., normal cognitive development, congenital hypotonia, severe muscle weakness, physical abnormalities, inability to walk; 12d-seizure, scoliosis, secondary joint contractures; elevated levels CPK ( 464U/L)
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDC1A
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-08 14:56:14 +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.