syndromic X-linked intellectual disability Siderius type

Summary

DOID:0060812 - syndromic X-linked intellectual disability Siderius type

Disease Ontology 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.

Synonyms: MRXSSD, Siderius X-linked mental retardation syndrome, Siderius-Hamel syndrome, mental retardation syndrome, X-linked, Siderius type,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: phf8

OMIM:

MIM:300263 - siderius x-linked mental retardation syndrome; mrxssd

MIM:300263 - siderius x-linked mental retardation syndrome; mrxssd

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)