Global Variome shared LOVD

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

Phenotype #0000346975 Individual ID 00458540 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., birth-OFC 33cm (SD-1.3); weight 45kg (SD-1.8), height 150cm (SD-2.2), 48cm (SD-5.4); feeding difficulties; severe intellectual disability; delayed gross motor development, 7y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes Inheritance Familial, autosomal recessive Age/Examination 17y05m (17 years, 5 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 2024-12-16 23:21:23 +01:00 (CET) Date last edited 2024-12-18 16:27:45 +01:00 (CET)

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