OBO ID: DOID:0060470 |
Term Name: | salt and pepper syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060470 ) |
OTHER salt and pepper syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS (1)
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