Global Variome shared LOVD

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Phenotype #0000021594 Individual ID 00025483 Associated disease HPMRS2;GPIBD6 Phenotype details Development was profoundly delayed from early infancy. Dysmorphic facial features included broad nasal bridge and tented upper lip. Inguinal hernia was noted. The patient developed clusters of tonic spasms and was diagnosed as having West syndrome based on a high-amplitude hypsarrhythmic pattern on interictal EEG. ALP level were elevated. 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 2014-12-10 23:42:34 +01:00 (CET) Date last edited N/A

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