OBO ID: DOID:0070289
Term Name: primary autosomal recessive microcephaly 16 Search Ontology:
Synonyms:
  • MCPH16
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25259927
References:
Ontology: Human Disease   (DOID:0070289)
OTHER primary autosomal recessive microcephaly 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANKLE2 Microcephaly 16, primary, autosomal recessive 616681
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None