| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
salt & pepper syndrome [EXACT] salt-and-pepper syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |