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syndromic X-linked intellectual disability Siderius type (DOID:0060812)
Synonyms: mental retardation syndrome, X-linked, Siderius type; MRXSSD; Siderius X-linked mental retardation syndrome; Siderius-Hamel syndrome
Alt IDs: OMIM:300263, ICD10CM:Q87.8, MESH:C537333, ORDO:85287, UMLS_CUI:C1846055
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory