Global Variome shared LOVD

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

Phenotype #0000357238 Individual ID 00472428 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; hypotonia; nystagmus; not sitting; not walking; truncal ataxia; no tremor; no dysmetria; no speech; no speech; severe intellectual disability; severe behavioral anomalies, temper tantrums, aggressivity, inappropriate laughing, crying; development slow progress then stagnation, no regression; 5y-profound bilateral sensorineural deafness; normal ears; 2m-nystagmus, strabism; hypertelorism; 22y-MRI brain normal mesencephalon, major pons hypoplasia, absence protuberance’s bulging, hypoplasia medulla, antero posterior flattening medulla, severe vermian hypoplasia (near absence), hypodysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal Diagnosis/Initial hearing loss Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 2m 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 2026-02-12 09:41:25 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.