Global Variome shared LOVD

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Phenotype #0000045251 Individual ID 00058660 Associated disease AAS;MRX16 Phenotype details short stature (125 cm; 3rd percentile) and mild learning and behavioural disabilities (hyperactivity and attention deficit). Clinical examination revealed hypertelorism (inner canthal distance 3.5 cm; 97th percentile – outer canthal distance 9.5 cm; 97th percentile), left palpebral ptosis, short nose with anteverted nostrils, long philtrum, posteriorly angulated low-set ears, prominent umbilicus, hyperextensible joints and brachydactyly with cutaneous II–V syndactyly Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 10y (10 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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