Phenotype #0000284133

Global Variome shared LOVD

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

Individual ID	00390596
Associated disease	MDDG
Phenotype details	limb-girdle muscular dystrophy, mental retardation; 1y2m-walk, run; no contractures; intellectual disability; no seizures; CK level 3200-5193 IU/L; MRI brain normal; ECG-normal; UCG-normal
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	11y8m (11 years, 8 months)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	abnormal walking gait
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-10 16:44:31 +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.