OBO ID: DOID:0070290
Term Name: primary autosomal recessive microcephaly 6 Search Ontology:
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)
OTHER primary autosomal recessive microcephaly 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CENPJ Microcephaly 6, primary, autosomal recessive 608393
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None