Global Variome shared LOVD

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Phenotype #0000045255 Individual ID 00058664 Associated disease AAS;MRX16 Phenotype details short stature (87 cm, 32 S.D.) and normal intelligence with round faces, prominent foreheads with widow's peak, hypertelorism, antimongoloid slant of palpebral fessures, bilateral ptosis, hypoplasia of the midface, short and broad nose with anteverted nostrils and long broad philtrum, small hands and feet; the typical genital appearance reported in AAS (shawl scrotum) was not evident, while bilateral criptorchidism had been surgically corrected Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 2y (2 years) 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 2010-12-12 10:19:05 +01:00 (CET)

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