Phenotype #0000045252

Individual ID 00058661
Associated disease AAS;MRX16
Phenotype details long face, telecanthus (inner canthal distance 3.7 cm; 497th percentile – outer canthal distance 8.5 cm; 80th percentile), short nose with anteverted nostrils, long philtrum, micrognatia and posteriorly angulated low-set ears. He had short stature (105 cm; o3th percentile), pectus excavatum, hyperextensible joints, brachydactyly with cutaneous I–V syndactyly, single palmar creases, hypospadias and right cryptorchidism
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination 7y (7 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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