Global Variome shared LOVD

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

Phenotype #0000023276 Individual ID 00027203 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details ID NA; absent speech; hypotonia; late motor development; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad finger/toes; Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-12-29 14:24:36 +01:00 (CET) Date last edited 2015-02-20 22:33:43 +01:00 (CET)

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