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Human Disease

brachycephaly, trichomegaly, and developmental delay

Term ID
DOID:0070415
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models