. Author manuscript; available in PMC: 2017 May 1.

Published in final edited form as: Am J Med Genet A. 2016 Feb 16;170(5):1165–1173. doi: 10.1002/ajmg.a.37595

Table 1.

Characteristics of 16p13.11 variations

Parameter	Case #1	Case #2
Psychosis	yes	yes
Age of psychosis onset	72 months	48 months
Microcephaly	No	No
Macrocephaly	No	No
Epilepsy	No	Yes
Global DD	No	Borderline or No
Learning disability	Below average	Yes (borderline)
Language delay	Low average	Yes
Hypotonia	No	No
Failure to thrive	No	No
Autism Spectrum Disorder	No	Yes
Cardiac defect	No	No
Dysmorphism	clubfoot	No
Abnormal MRI or EEG	Normal EEG, MRI not done	Abnormal EEG with sleep activated midline and left parietal spikes. MRI with Chiari I malformation and holocord syrinx
Parent with mental health problems	Yes, father	No, but seizures and neurologic disorder
Strabismus	Variable Intermittent Exotropia	Variable Intermittent Exotropia
Other abnormality	club foot	Chiari I malformation
Height (on average)	5^th percentile	Between 75^th and 90^th percentile
Weight (on average)	25^th percentile	Above 97^th percentile (due to medicine)