Term Name:	salt and pepper syndrome
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.
Ontology:	Human Disease [DOID:0060470]   ( DOID:0060470 )