Global Variome shared LOVD

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

Phenotype #0000223440 Individual ID 00295960 Associated disease SYNS1 Phenotype details proximal symphalangism (HP:0100264), conductive hearing loss (HP:0000405), cutaneous syndactyly of toes (HP:0010621), clinodactyly of the 5th finger (HP:0004209), strabismus (HP:0000486), hyperopia (HP:0000540), amblyopia (HP:0000646) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Zhaoyu Pan Database submission license No license selected Created by Zhaoyu Pan Date created 2020-03-30 17:30:51 +02:00 (CEST) Date last edited 2020-04-01 03:58:51 +02:00 (CEST)

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