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. 2019 May 9;104(6):1202–1209. doi: 10.1016/j.ajhg.2019.03.026

Table 1.

Summary of Clinical Features in the Affected Individuals

Case ID Family 1_IV:12 Family 1_IV:13 Family 1_IV:16 Family 2_IV:7 Family 2_IV:8 Family 2_IV:10 Family 2_IV:12
Gender male male female male male male male
Age 15 years 12 years 5 years 28 years 26 years 24 years 16 years
ID P P P P P P P
Epilepsy P P A P P P P
GDD P P P P P P P
MRI brain NA arachnoid granulation NA NA NA N N
Other features mild dysmorphism, ADHD mild dysmorphism prune belly syndrome prune belly syndrome, unilateral renal agenesis, macrocephaly ADHD, CHD, macrocephaly

Abbreviations are as follows: A, absent; ADHD, attention deficit hyperactivity disorder; CHD, congenital heart disease; N, normal; NA, not available; and P, present.