Global Variome shared LOVD

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Phenotype #0000155313 Individual ID 00207535 Associated disease MCAHS1;GPIBD3 Phenotype details epilepsy, hypotonia, developmental delay, accompanied by nearly normal laboratory test results 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 2018-11-23 20:06:45 +01:00 (CET) Date last edited N/A

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