Global Variome shared LOVD

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Phenotype #0000021992 Individual ID 00025922 Associated disease HPMRS1;GPIBD2 Phenotype details These siblings share severe mental retardation, epilepsy, anterior displaced anus, and hypoplastic nails. Fetal pads were noted on all fingers and toes. The nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger in the older sibling. Elder sister died suddenly at age 10 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 2010-11-17 16:14:52 +01:00 (CET) Date last edited N/A

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