Global Variome shared LOVD

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Phenotype #0000021577 Individual ID 00025464 Associated disease HPMRS4;GPIBD10 Phenotype details She had severe psychomotor delay. Myoclonic seizures started in her second year of life. Physical examination of this 2-year-old female showed normal growth parameters and OFC but axial muscular hypotonia, uncoordinated movements, and facial dysmorphism including hypertelorism, short nose with broad bridge and tip, Tented upper-lip vermilion and Large, fleshy ear lobes. ALP activity was elevated. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 years) 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 2014-12-08 19:00:53 +01:00 (CET) Date last edited 2014-12-08 19:09:32 +01:00 (CET)

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