Global Variome shared LOVD

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Phenotype #0000024985 Individual ID 00028957 Associated disease MCAHS2;GPIBD4 Phenotype details The patients had profound retardation, axial hypotonia, epileptic seizures, and hypsarrhythmia. None of them suffered from any signs of PNH. The hypomorph protein, in this patients, prevents the lethality but not the MCAHS-2 like phenotype. Diagnosis/Initial - Inheritance Familial, X-linked 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 21:23:05 +01:00 (CET) Date last edited 2015-01-06 21:26:04 +01:00 (CET)

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