Global Variome shared LOVD

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

Phenotype #0000242259 Individual ID 00320213 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details increased irritability when anemia worsens; transfusion every 4–6 weeks; severe global developmental delay, microcephaly, microgyria, dystonia (axial hypotonia with appendicular hypertonia), suspected Leber congenital amaurosis and/or cortical blindness, failure to thrive, frequent urinary tract infections Inheritance Isolated (sporadic) Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-24 13:23:14 +01:00 (CET) Date last edited 2020-11-24 13:25:08 +01:00 (CET)

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