Global Variome shared LOVD

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

Phenotype #0000243374 Individual ID 00324878 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 41w, weight +0.8SD; weight -1.2SD, length -3.1SD, OFC +0.6SD; moderate intellectual disability/developemental delay; hypotonia; seizures status epilepticus; motor delay; 20m-walk; speech delay; 12m-first words; autistic behaviour; no hyperactivity; no feeding difficulties; no sleeping disturbance Inheritance Isolated (sporadic) Age/Examination 10y06m (10 years, 6 months) 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 2020-12-24 15:03:09 +01:00 (CET) Date last edited 2022-09-30 19:29:49 +02:00 (CEST)

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