Global Variome shared LOVD

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

Phenotype #0000051186 Individual ID 00065049 Associated disease CCTRCT Phenotype details nuclear cataract; bilateral microphthalmia, convergent squint, low-frequency multiplanar nystagmus, R scalloped pupil, roving eye movements, pupils difficult to dilate, no recordable VEP response; mild microcephaly and LD Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - 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 2016-05-15 22:17:13 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.