Global Variome shared LOVD

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

Phenotype #0000353644 Individual ID 00468492 Associated disease CTRCT Phenotype details posterior polar cataract, nuclear/posterior polar cataract; no symmetrical opacities; delayed development; decreased height/weight, typical craniofacial features, sparse scalp hair, delayed development, swelling optic disc, macular hypoplasia, retinal neovascularization, congenital hypothyroidism Diagnosis/Initial bilateral cataract Inheritance Isolated (sporadic) Diagnosis/Definite AYGRP Age/Examination - Age/Diagnosis - Age/Onset 00y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-09 20:53:28 +01:00 (CET) Date last edited 2025-11-09 21:16:52 +01:00 (CET)

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