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.