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ZIRC
OBO ID: DOID:0070279
Term Name: primary autosomal recessive microcephaly 14 Search Ontology:
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)
OTHER primary autosomal recessive microcephaly 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SASS6 ?Microcephaly 14, primary, autosomal recessive 616402
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None