Search Ontology:
Human Disease
Yu-Kury neurodevelopmental syndrome
- Term ID
- DOID:0070695
- Synonyms
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- Definition
- An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23. (2)
- References
- Ontology
- Human Disease ( DOID:0070695 )
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Genes Involved
Zebrafish Models