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ZIRC
OBO ID: DOID:0070288
Term Name: primary autosomal recessive microcephaly 17 Search Ontology:
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)
OTHER primary autosomal recessive microcephaly 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CIT Microcephaly 17, primary, autosomal recessive 617090
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None