Search Ontology:
Human Disease

primary autosomal recessive microcephaly 11

Term ID
DOID:0070287
Synonyms
  • MCPH11
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/23418308
References
Ontology
Human Disease   ( DOID:0070287 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models