non-syndromic X-linked intellectual disability 98

Summary

DOID:0112044 - non-syndromic X-linked intellectual disability 98

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.

Synonyms: MRX98, X-linked mental retardation 98,

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

OMIM:

MIM:300912 - mental retardation, x-linked 98; mrx98

MIM:300912 - mental retardation, x-linked 98; mrx98

Other Model Organisms: AGR, 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)