Global Variome shared LOVD

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

Phenotype #0000353183 Individual ID 00468031 Associated disease ? Diagnosis/Initial hypotonia Diagnosis/Definite JBTS17 Phenotype details see paper; ..., ataxia; no dysmetria; oculomotor apraxia; no intention tremor;  ; developmental delay; intellectual disability; speech two-word sentences; hypotonia; no pyramidal sign; no extrapyramidal sign; no epileptic seizure; aortic coarctation; MRI vermis hypoplasia, no brainstem atrophy Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 1y Phenotype/Onset hypotonia 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 2025-11-07 09:37:50 +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.