Search Ontology:
Human Disease

primary autosomal recessive microcephaly 6

Term ID
DOID:0070290
Synonyms
  • MCPH6
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/15793586
References
Ontology
Human Disease   ( DOID:0070290 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models