Global Variome shared LOVD

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

Phenotype #0000155753 Individual ID 00207984 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details HP:0100660 (Dyskinesia); HP:0000252 (Microcephaly); HP:0008936 (Muscular hypotonia of the trunk); HP:0001382 (Joint hypermobility); HP:0002307 (Drooling); HP:0012758 (Neurodevelopmental delay); HP:0001344 (Absent speech); HP:0001250 (Seizures); HP:0002133 (Status epilepticus); HP:0002305 (Athetosis); HP:0002487 (Hyperkinesis); HP:0002650 (Scoliosis) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2018-12-06 11:38:03 +01:00 (CET) Date last edited 2019-02-24 22:35:08 +01:00 (CET)

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