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Disease Ontology Browser
X-linked mental retardation Gustavson type (DOID:0081123)
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Synonyms: Gustavson type of X-linked syndromic intellectual developmental disorder; mental retardation with optic atrophy, deafness and seizures
Alt IDs: OMIM:309555, ORDO:3078
Definition: A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/30/2025
MGI 6.24
The Jackson Laboratory