Inheritance of a MECP2 disorder is X-linked, with classic Rett syndrome seen in females. Affected males show a different phenotype, one of which involves severe intellectual disability.

Patient selection: male infant or child


Clinical features:

(1) moderate-to-severe intellectual disability

(2) resting tremor

(3) slowness of movements

(4) ataxia

(5) psychosis or behavioral problems

(6) progressive spasticity


Some patients show the PPM-X syndrome (associated with p.(Ala140Val) variant):

(1) pyramidal signs

(2) parkinsonism

(3) macroorchidism


Features that differ from neonatal encephalopathy phenotype:

(1) normocephaly

(2) seizures absent or not a prominent feature

(3) normal EEG

(4) normal brain MRI

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