salt and pepper syndrome (DOID:0060470)
Alliance: disease page
Synonyms: salt & pepper syndrome; salt-and-pepper syndrome
Alt IDs: OMIM:609056, ORDO:370938
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.