Global Variome shared LOVD

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

Phenotype #0000284143 Individual ID 00390606 Associated disease MDDG Phenotype details deceased; Fukuyama congenital muscular dystrophy; 5y-sit; contractures knee; intellectual disability; seizures; no eye movement; CK level 648-11600 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; IHC no DAG Diagnosis/Initial congenital muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 13y3m (13 years, 3 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.