Global Variome shared LOVD

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

Phenotype #0000222990 Individual ID 00289377 Associated disease brain calcification Diagnosis/Initial brain calcification Diagnosis/Definite - Phenotype details normal birth and early milestones; onset childhood, autism spectrum disorder; no pyramidal syndrome; cerebellar syndrome (upper and lower limb mild ataxia, nystagmus; no Parkinsonism ; no dystonia; autism spectrum disorder; decline in academic performance; MRI brain basal ganglia, and frontal cortex Inheritance Familial, autosomal recessive Age/Examination 15y (15 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

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