Global Variome shared LOVD

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

Phenotype #0000306863 Individual ID 00415062 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., profound developmental delay, no speech, unable to sit; 7m-epileptic spasms, focal, tonic clonic, tonic seizures; MRI periventricular leukomalacia, metopic synostosis; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; poor fixation Inheritance Familial, autosomal dominant Age/Examination 11y (11 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:14:32 +02:00 (CEST)

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