Search Ontology:
Human Disease

salt and pepper syndrome

Term ID
DOID:0060470
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 the SIAT9 gene on chromosome 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/24026681
References
Ontology
Human Disease   ( DOID:0060470 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models