Search Ontology:
Human Disease
syndromic X-linked intellectual disability Siderius type
- Term ID
- DOID:0060812
- Synonyms
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- mental retardation syndrome, X-linked, Siderius type
- MRXSSD
- Siderius X-linked mental retardation syndrome
- Siderius-Hamel syndrome
- Definition
- A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (2)
- References
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- MESH:C537333
- MIM:300263
- ORDO:85287
- UMLS_CUI:C1846055
- Ontology
- Human Disease ( DOID:0060812 )
- is a type of
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Genes Involved
Zebrafish Models