Global Variome shared LOVD

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

Phenotype #0000257416 Individual ID 00334927 Associated disease PBD12A Phenotype details Sibling pair, both with a history of developmental delay presenting at 7 and 8 years of age with progressive ataxia, occasional myoclonus and TCS and dementia. Associated with limb spasticity. Diagnosis/Initial progressive myoclonus epilepsy , dementia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-04-14 09:14:49 +02:00 (CEST) Date last edited N/A

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