Global Variome shared LOVD

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

Phenotype #0000331318 Individual ID 00441935 Associated disease ? Diagnosis/Initial axial hypotonia, hypertonia, dystonia Diagnosis/Definite - Phenotype details see paper (Skorvanek); ..., 6y6m-deceased; dystonia; chorea; hypotonia; seizures; intellectual disability; growth retardation; optic atrophy, weakness, acute hepatopathy, thin upper lip, low set ears, broad nasal bridge, hypertelorism, ogival palate Inheritance Familial, autosomal recessive Age/Examination 6y6m (6 years, 6 months) Age/Diagnosis - Age/Onset <1y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-15 14:04:23 +01:00 (CET) Date last edited N/A

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