Human genes for salt and pepper syndrome
Salt and pepper syndrome [DOID:0060470]
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.
Synonyms: salt and pepper syndrome, DOID:0060470, salt and pepper disease, salt and pepper disorder, salt and pepper syndromes ...