Phenotype #0000045261

Individual ID 00058670
Associated disease AAS;MRX16
Phenotype details Short stature, relative macrocephaly and a strikingly similar face with ocular hypertelorism, down- slanting palpebral fissures, ptosis of the upper eyelids, flat philtrum, bow shape of the upper lip and pointed chin. They also had brachydactyly, typical hyperextensibility of the proximal and incomplete extensibility of the distal interphalangeal joints, and transverse palmar crease. Also noted were inguinal hernia, dorsal and shawl scrotum .
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
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 2010-12-12 10:22:54 +01:00 (CET)

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