Global Variome shared LOVD

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

Phenotype #0000258876 Individual ID 00363527 Associated disease BSVD2;POREN2 Phenotype details Dystonic movement disorder, severe generalised dystonia, scoliosis, epilepsy (myoclonic), porencephaly, cognition less affected than motor function, no speech, no voluntary motor function, sister with mild porencephaly Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 12y Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-04-29 12:22:14 +02:00 (CEST) Date last edited 2021-04-30 11:32:28 +02:00 (CEST)

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