Phenotype #0000124709

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Gert Matthijs

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
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)

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