OBO ID: DOID:0070282
Term Name: primary autosomal recessive microcephaly 8 Search Ontology:
Synonyms:
  • MCPH8
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. https://www.ncbi.nlm.nih.gov/pubmed/22521416
References:
Ontology: Human Disease   ( DOID:0070282 )
OTHER primary autosomal recessive microcephaly 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP135 Microcephaly 8, primary, autosomal recessive 614673
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None