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Metadata
ID DOID:0112276
Name neurodevelopmental disorder with involuntary movements
Definition A 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.
https://pubmed.ncbi.nlm.nih.gov/28357411/, https://pubmed.ncbi.nlm.nih.gov/27068059/
Xrefs

MIM:617493

Synonyms

NEDIM [EXACT]

Parent Relationships

is_a movement disease

is_a autosomal dominant disease

Subclass Logical Relationships

has phenotype some Neurodevelopmental abnormality

has material basis in some autosomal dominant inheritance

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