Search Ontology:
Human Disease
neurodevelopmental disorder with speech delay and behavioral abnormalities
- Term ID
- DOID:0070710
- Synonyms
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- NEDSBH
- Definition
- An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/39721588/
- References
- Ontology
- Human Disease ( DOID:0070710 )
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Genes Involved
Zebrafish Models