Global Variome shared LOVD

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

Phenotype #0000353643 Individual ID 00468491 Associated disease CTRCT Phenotype details pulverulent/posterior polar cataract; no symmetrical opacities; decreased height, typical craniofacial features; decreased weight, typical craniofacial features, sparse scalp hair, intellectual disability, macular hypoplasia, cleft palate, intestinal atresia Diagnosis/Initial bilateral cataract Inheritance Isolated (sporadic) Diagnosis/Definite AYGRP Age/Examination - Age/Diagnosis - Age/Onset 04y 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 21:13:52 +01:00 (CET)

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