Global Variome shared LOVD

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

Phenotype #0000231240 Individual ID 00305391 Associated disease ? Diagnosis/Initial deafness, cataract Diagnosis/Definite - Phenotype details congenital cataract; strabismus; congenital deafness; round ears; synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; no preauricular fibrochondroma; thin upper lip; severe developmental delay; autistic features; peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; depigmented hairs of lower limbs Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-24 16:05:26 +02:00 (CEST) Date last edited N/A

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