PPM-X syndrome

PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.

Other names

MRXS13; PPMX; X-linked mental retardation, syndromic 13

Inheritance pattern

X-linked

Related genes

MECP2

Source: MedlinePlus Genetics, U.S. National Library of Medicine.