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

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

: phf8

MIM:

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

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

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

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

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