Global Variome shared LOVD

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

Phenotype #0000304875 Individual ID 00412889 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe Intellectual disability; no speech; 5m-sit, 18m-walk; no epilepsy; attention deficit hyperactivity disorder, autism spectrum disorder; MRI brain normal; poor sleep requiring melatonin; possible squint, no vision anomalies diagnosed; broad forehead, telecanthus; OFC 53cm; weight 21kg, height 107.3cm Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2022-07-06 11:59:56 +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.