Table 3

Clinical data from female patients with a MECP2 gene mutation

Case 1 Case 2 Case 3 Case 4 Case 5
OFC at birthM?−2 SDM−1 SD
Acquired microcephaly−2 SD at 2 y−1.5 SD at 2 y−2 SD at 18 mth−2 SD at 2 y−4 SD at 3.5 y
Psychomotor development until 6 monthsMild hypotonia??Mild hypotoniaHypotonia, poor contact from birth
Loss of purposeful hand skills?+ at 18 mth+ at 2 yNever acquired
Hand stereotypies+++++++++
Social contactPoor/bursts of laughterPoor/bursts of laugherInappropriate smilePoor/inappropriate smileAbsent
Truncal ataxia and apraxia of gait++++++Poor spontaneous movements
EEG anomalies/epilepsyBradyarrythmia/ paroxysmal anomaliesParoxysmal anomaliesBradyarrythmia/ paroxysmal anomalies
Growth retardation−2 SD