Global Variome shared LOVD

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

Phenotype #0000333779 Individual ID 00444526 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details Specific learning disability, Spasticity, Postural instability, Loss of speech, Loss of ability to walk, Global developmental delay, Dysphagia, Delayed gross motor development, Delayed ability to walk, Congenital sensorineural hearing impairment, Cerebellar ataxia associated with quadrupedal gait, Autistic behavior, Ataxia, Abnormal pyramidal sign Inheritance Familial, autosomal recessive Age/Examination 10y-20y 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 2023-12-24 18:16:19 +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.