Global Variome shared LOVD

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

Phenotype #0000254808 Individual ID 00359554 Associated disease SMAPME Phenotype details (+) Ataxia,(+) Global developmental delay,(+) Profound global developmental delay,(+) Epileptic encephalopathy,(+) Akathisia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-25 10:24:40 +01:00 (CET) Date last edited 2021-03-25 11:04:54 +01:00 (CET)

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