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Metadata
ID	DOID:0060470
Name	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
Xrefs	OMIM:609056 ORDO:370938
Subsets	DO_rare_slim
Synonyms	salt & pepper syndrome [EXACT] salt-and-pepper syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease