Global Variome shared LOVD

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

Phenotype #0000284117 Individual ID 00390580 Associated disease MDDG Phenotype details congenital muscular dystrophy, mental retardation; 2y1m-walk; no contractures; intellectual disability; seizures; esotropia; CK level 4248-8760 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; IHC no DAG; ECG normal; UCG foramen ovale persistens Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 3y8m (3 years, 8 months) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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.