Search Ontology:
Human Disease
Baraitser-Winter syndrome 2
- Term ID
- DOID:0081113
- Synonyms
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- Definition
- A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/25052316/
- References
- Ontology
- Human Disease ( DOID:0081113 )
- is a type of
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