Table 2.

Frequency of Phenotypic Features in 86 Reported Individuals with 17q12 Recurrent Duplication

Phenotypic Feature% of Persons with Feature
Intellectual disability71%
Speech delay65%
Gross motor delay49%
OFC <5th centile41%
Behavioral abnormalities62%
Seizures/epilepsy36%
Hypotonia73%
Other neurologic abnormalities85%
Height <5th centile22%
Ophthalmologic abnormalities28%
Weight <5th centile21%
Endocrine abnormalities26%
Weight >95th centile13%
Cardiac abnormalities14%
Renal abnormalities20%
Height >95th centile6%

From: 17q12 Recurrent Duplication

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