Global Variome shared LOVD

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

Phenotype #0000124709 Individual ID 00152366 Associated disease WWS Phenotype details pregnancy terminated for holoprosencephaly, major hydrocephaly. Dysmorphic features; macrocephaly with wide convex forehead, large fontanel, bilateral cleft lip, no ocular anomaly Neuropathology; LIS type II, muscular dystrophy Diagnosis/Initial Walker-Warburg syndrome Inheritance Isolated (sporadic) Diagnosis/Definite MDDGA-1 Age/Examination - Age/Diagnosis - Age/Onset - 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 2008-07-18 17:58:07 +02:00 (CEST) Date last edited 2012-03-10 10:37:27 +01:00 (CET)

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