neurodevelopmental disorder with speech delay, movement abnormalities, and seizures

Term ID

DOID:0061253

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/41125872/

References

• MIM:621456

Ontology

Human Disease   ( DOID:0061253 )