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Neurodevelopmental Disorder With Involuntary Movements

Disease ID: disease_node_16712

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DbxrefMIM:617493
SubclassofDOID_0050736, DOID_480
Data SourceDOID
SynonymsNEDIM
Doid Labelneurodevelopmental disorder with involuntary movements
Doid DescriptionA movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
Has PhenotypeHP_0012759
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16712
Doid IdDOID_0112276
LabelNeurodevelopmental Disorder With Involuntary Movements