Global Variome shared LOVD

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Phenotype #0000045264 Individual ID 00058673 Associated disease AAS;MRX16 Phenotype details Ptosis and camptodactyly, his weight was less than 5th percentile, height was 1st percentile and head circumference was 25th percentile. Posteriorly rotated ears, bilateral ptosis, ocular hypertelorism, downslanting palpebral fissures, small upturned nose, high arched palate, bilateral camptodactyly involving 3rd, 4th, and 5th fingers and mild shawl scrotum with right inguinal hernia. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 1y3m (1 year, 3 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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