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

Xenbase 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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010286 - midbrain neural tube

MONDO:0010286 - midbrain neural tube

MIM:

MIM:300263 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; MRXSSD

MIM:300263 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; 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)