Global Variome shared LOVD

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

Phenotype #0000002859 Individual ID 00004065 Associated disease MDDGA7 Phenotype details Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; no microphthalmia, retinal dysgenesis; ; muscular dystrophy, hypotonia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - CK-level 2,500 Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-20 10:48:47 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.