OBO ID: DOID:0070283
Term Name: primary autosomal recessive microcephaly 13 Search Ontology:
Synonyms:
  • MCPH13
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/24748105
References:
Ontology: Human Disease   (DOID:0070283)
OTHER primary autosomal recessive microcephaly 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CENPE ?Microcephaly 13, primary, autosomal recessive 616051
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None