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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 SIAT9 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

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