Global Variome shared LOVD

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Phenotype #0000045238 Individual ID 00058647 Associated disease AAS;MRX16 Phenotype details unusual facial appearance and short stature. hypertelorism (inner canthal distance 3.9 cm; 497th percentile – outer canthal distance 11.5 cm; 497th percentile), antimongoloid slant of palpebral fissures, widow’s peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly with brachydactyly and clinodactyly of the Vth fingers, transverse palmar crease. The child also had a shawl scrotum, right cryptorchidism, a small right inguinal hernia and an umbilical hernia. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 1y4m (1 year, 4 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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