Global Variome shared LOVD

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Phenotype #0000045237 Individual ID 00058646 Associated disease AAS;MRX16 Phenotype details he is a boy of short stature (151 cm; 3th centile) with OFC of 54 cm (25th centile), widow’s peak, synophrys, inner canthal distance of 3.5 cm (90th centile) and outer canthal distance 10 cm (97th centile). Dysmorphic features include downslanting palpebral fissures, palpebral ptosis, short and convex nose, long philtrum, right maxillary hypoplasia with right microtia, curved linear dimple below the lower lip, short neck, pectus excavatum, brachydactyly with mild soft tissue webbing between the fingers, single crease in the fifth fingers Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 15y (15 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 N/A

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