| Metadata | |
|---|---|
| ID | DOID:0081123 |
| Name | X-linked mental retardation Gustavson type |
| 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. https://pubmed.ncbi.nlm.nih.gov/37277488/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Gustavson type of X-linked syndromic intellectual developmental disorder [EXACT] mental retardation with optic atrophy, deafness and seizures [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked inheritance existence starts during some Infantile onset |