Table 2.

Select Features of MECP2 Duplication Syndrome

Feature% of MALES w/FeatureComment
Developmental delay /
Intellectual disability 		100%Most males have moderate-to-severe intellectual disability.
Infantile hypotonia 95%
Feeding issues 60%
Constipation 61%
Walk independently or w/support 55%
Spasticity 65%Can be an underestimation given that this feature is age related
Seizures ~50%
Recurrent infections >75%Most often affecting the respiratory tract
Nonspecific anomalies on brain imaging 69%

From: MECP2 Duplication Syndrome

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