Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.