Global Variome shared LOVD

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

Phenotype #0000060994 Individual ID 00065113 Associated disease ADSD2 Phenotype details no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), Bilateral striatal atrophy (HP:0010994), adult-onset parkinsonism (HP:0001300) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset >05y Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Johan den Dunnen Date created 2016-10-11 09:01:41 +02:00 (CEST) Date last edited N/A

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