Search Ontology:
Human Disease
primary autosomal dominant microcephaly 18
- Term ID
- DOID:0070295
- Synonyms
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- MCPH18
- Definition
- A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. https://www.ncbi.nlm.nih.gov/pubmed/27008544
- References
- Ontology
- Human Disease ( DOID:0070295 )
- is a type of
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