. 2019 Jun;5(3):a004010. doi: 10.1101/mcs.a004010

Table 4.

Clinical phenotypes in the patient and frequency in Jacobsen syndrome (JS)

System/defect	Patient	Present in JS
Congenital heart disease	Complex single ventricle	Yes (54%)^b
ADHD	Yes	Yes (41%)^a
Intellectual disability	Yes	Yes (>95%)^a
Abnormal brain MRI	Yes	Yes (51%)^b
Immunodeficiency	Decreased B cells	Yes (83%)^c
Structural kidney defects	No	Yes (8%)^b
Craniofacial defects	Ptosis, microcephaly	Yes (>95%)^b
	Downslanting palpebral
	fissures, low posterior hairline

^aBased on Direct Behavioral Rating Scale, n = 86 (Mattson S, unpubl data, 2019).