Search Ontology:
Human Disease

primary autosomal recessive microcephaly 16

Term ID
DOID:0070289
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models