X-linked mental retardation Gustavson type

Term ID

DOID:0081123

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. https://pubmed.ncbi.nlm.nih.gov/37277488/

References

• GARD:5611
• MIM:309555
• ORDO:3078

Ontology

Human Disease   ( DOID:0081123 )