Global Variome shared LOVD

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

Phenotype #0000278966 Individual ID 00385170 Associated disease - Phenotype details HP:0001249 Intellectual disability; HP:0000708 Behavioural abnormality; HP:0007642 Congenital stationary night blindness Diagnosis/Initial Congenital Stationary Night Blindness; (Possible diagnosis by panel) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y2m (14 years, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-08 17:29:22 +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.