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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