Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
salt & pepper syndrome [EXACT] salt-and-pepper syndrome [EXACT] |
Parent Relationships |
is_a syndrome |