non-syndromic X-linked intellectual disability 104

Summary

DOID:0112018 - non-syndromic X-linked intellectual disability 104

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.

Synonyms: MRX104, X-linked mental retardation 104

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

: frmpd4

MIM:

MIM:300983 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104; XLID104

MIM:300983 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104; XLID104

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

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

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