Search Ontology:
Human Disease
brachycephaly, trichomegaly, and developmental delay
- Term ID
- DOID:0070415
- Synonyms
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- BTDD
- Macinnes syndrome
- MCINS
- Definition
- A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. https://pubmed.ncbi.nlm.nih.gov/28257692/
- References
- Ontology
- Human Disease ( DOID:0070415 )
- is a type of
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