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salt and pepper syndrome
Summary
- Synonym
-
- salt & pepper syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060470
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002133 | Status epilepticus |
| HP:0001252 | Hypotonia |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0000572 | Visual loss |
| HP:0003593 | Infantile onset |
| HP:0001344 | Absent speech |
| HP:0000252 | Microcephaly |
| HP:0002013 | Vomiting |
| HP:0006834 | Developmental stagnation at onset of seizures |
| HP:0000737 | Irritability |
