Term Name: | syndromic X-linked intellectual disability Siderius type |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0060812] ( DOID:0060812 ) |