Search Ontology:
Human Disease

primary autosomal recessive microcephaly 17

Term ID
DOID:0070288
Synonyms
  • MCPH17
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/27453578
References
Ontology
Human Disease   ( DOID:0070288 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models