Global Variome shared LOVD

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Phenotype #0000021997 Individual ID 00025927 Associated disease HPMRS1;GPIBD2 Phenotype details At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 years. 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 2014-12-04 19:36:42 +01:00 (CET) Date last edited N/A

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