Global Variome shared LOVD

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

Phenotype #0000222991 Individual ID 00289378 Associated disease brain calcification Diagnosis/Initial brain calcification Diagnosis/Definite - Phenotype details normal birth and early milestones; onset early childhood, seizures; no pyramidal syndrome; no cerebellar syndrome; no Parkinsonism ; no dystonia; normal cognitive function; MRI brain basal ganglia, dentate nucleus and cerebellar hemispheres Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) 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 2020-03-07 20:12:27 +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.