Search Ontology:
Human Disease

primary autosomal recessive microcephaly 14

Term ID
DOID:0070279
Synonyms
  • MCPH14
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/24951542
References
Ontology
Human Disease   ( DOID:0070279 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models