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Metadata
ID DOID:0061253
PURL http://purl.obolibrary.org/obo/DOID_0061253 Copy
Name neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
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/
Xrefs

MIM:621456

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is_a autosomal dominant intellectual developmental disorder

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