X-linked intellectual disability-psychosis-macroorchidism syndrome

Term ID

DOID:0060827

Synonyms

• Lindsay-Burn syndrome
• mental retardation with psychosis, pyramidal signs, and macroorchidism
• mental retardation, X-linked, syndromic 13
• MRXS13
• PPM-X
• X-linked mental retardation 79
• X-linked mental retardation with spasticity

Definition

A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (2)

References

• ICD10CM:F71.1
• OMIM:300055
• ORDO:3077

Ontology

Human Disease   ( DOID:0060827 )