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neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (DOID:0061253)
Alliance: disease page
Alt IDs: OMIM:621456
Definition: An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/31/2026
MGI 6.24 		The Jackson Laboratory