| Term Name: | X-linked mental retardation Gustavson type |
|---|---|
| Synonyms: | Gustavson type of X-linked syndromic intellectual developmental disorder, mental retardation with optic atrophy, deafness and seizures |
| 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. |
| Ontology: | Human Disease [DOID:0081123] ( DOID:0081123 ) |