Global Variome shared LOVD

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

Phenotype #0000061002 Individual ID 00065285 Associated disease ADSD2 Phenotype details no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), anxiety (HP:0000739), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), no restriction of diffusion (-HP:?), bilateral striatal atrophy (HP:?) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 08y Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Johan den Dunnen Date created 2016-10-11 09:29:28 +02:00 (CEST) Date last edited N/A

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