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 InternationalCreative Commons 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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