OBO ID: DOID:0060470
Term Name: salt and pepper syndrome Search Ontology:
Synonyms:
  • salt & pepper syndrome
  • salt-and-pepper syndrome
Definition: A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/24026681
References:
Ontology: Human Disease   (DOID:0060470)
OTHER salt and pepper syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ST3GAL5 Salt and pepper developmental regression syndrome 609056
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)