Table 1.
Clinical characteristics of study patients.
| Patient | Age (Years) | Gender | Mode/Gene | Developmental | Cranial/Bone | Renal |
|---|---|---|---|---|---|---|
| DP#42-5242 | 9 | M | CAII (IVS2 + 1G > A) | Delayed | Fracture ++ | RTA |
| DP#47-6342 | 8 | F | AR-CAII c.232 + 1G > A, IVS2 + 1G > A | Short Stature | Calcification | RTA |
| DP#52-4774 | 14 | F | CAII | ADHD, Delayed | Calcification | RTA |
| DP#53-3492 | 13 | M | CAII | Delayed | Calcification, Fractures | RTA |
| DP#54-5544 | 7 | M | AD-CAII c.232 + 1G > A; IVS2 + 1G > A | Delayed | Calcification, Fractures | RTA |
| DP#31-7530 | 9 | F | Healthy | Normal | No Abnormalities | N/A |
| DP#41-1082 | 7 | F | Healthy | Normal | No Abnormalities | N/A |
| DP#46-7880 | 8 | M | Healthy | Normal | No Abnormalities | N/A |
| DP#50-4300 | 14 | M | Healthy | Normal | No Abnormalities | N/A |
| DP#51-5231 | 7 | M | Healthy | Normal | No Abnormalities | N/A |
| DP#57-4600 | 11 | F | Healthy | Normal | No Abnormalities | N/A |
CA-II, carbonic anhydrase II; RTA, renal tubular acidosis; ADHD, attention deficit hyperactivity disorder; AR, autosomal recessive; AD, autosomal dominant; IVS 2, intron 2.