Global Variome shared LOVD

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Phenotype #0000024982 Individual ID 00028955 Associated disease MCAHS2;GPIBD4 Phenotype details Three males with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations, and other anomalies. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2015-01-06 20:16:13 +01:00 (CET) Date last edited N/A

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