Global Variome shared LOVD

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

Phenotype #0000346976 Individual ID 00458541 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., weight 30.4kg (SD-0.9), height 136cm (SD-1.2), 51.6cm (SD-1.9); feeding difficulties; moderate intellectual disability; delayed gross motor development, 2y-walk; dysarthria; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, no dysmorphic corpus callosum, no distorted configuration fornix/septum pellucidum; accessory nipple Inheritance Familial, autosomal recessive 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 2024-12-16 23:21:23 +01:00 (CET) Date last edited 2024-12-18 16:27:58 +01:00 (CET)

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