OBO ID: DOID:0070281
Term Name: primary autosomal recessive microcephaly 19 Search Ontology:
Synonyms:
  • MCPH19
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/29036432
References:
Ontology: Human Disease   (DOID:0070281)
OTHER primary autosomal recessive microcephaly 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COPB2 ?Microcephaly 19, primary, autosomal recessive 617800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None