Global Variome shared LOVD

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Phenotype #0000024989 Individual ID 00028963 Associated disease MCAHS2;GPIBD4 Phenotype details The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities and evidence of systemic iron overload. 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 22:41:59 +01:00 (CET) Date last edited N/A

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