Global Variome shared LOVD

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

Phenotype #0000119749 Individual ID 00147032 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NDAGSCW Inheritance Isolated (sporadic) Phenotype details height 121 cm (-1.5 SD), weight 25.7 kg (-0.5 SD), 48 cm (-3 SD); severe/profound intellectual disability; no speech; 8y-walk; single generalized seizure; no hypotonia (-HP:0001252); spasticity (HP:0001257); dystonia; broad-based gait; nystagmus (HP:0000639) horizontal; no refraction abnormality; strabismus; optic atrophy; developmental hip dysplasia requiring surgery; tapering fingers; long fingers; bruxism Age/Examination 08y08m (8 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-12-29 15:16:49 +01:00 (CET) Date last edited 2023-11-01 09:21:17 +01:00 (CET)

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