Global Variome shared LOVD

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Phenotype #0000045253 Individual ID 00058662 Associated disease AAS;MRX16 Phenotype details widow’s peak, hypertelorism, epicanthic folds, down-slanting palpebral fissures with bilateral palpebral ptosis, short and broad nose with anteverted nostrils, IVth and Vth fingers camptodactyly, shawl scrotum and inguinal hernias Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 4y6m (4 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2010-02-16 16:36:15 +01:00 (CET) Date last edited N/A

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