Clinical findings and patient histories
| UPN/sex . | Genotype . | Positive family history . | Clinical abnormalities . | Age at diagnosis . | Age at transplantation . |
|---|---|---|---|---|---|
| 275/F | V-ATPase* | Yes | Hepatomegaly, anemia | 1 mo | 5.5 mo |
| 292/F | V-ATPase* | No | Visual impairment, hypocalcemic convulsions, hepatosplenomegaly, anemia, thrombocytopenia | 2 mo | 6 mo |
| 302/F | V-ATPase* | No | Visual impairment, hypocalcemic convulsions, hepatosplenomegaly, anemia | 1 mo | 3.5 mo |
| 303/F | V-ATPase* | No | Visual impairment, hepatosplenomegaly, hypocalcemia, anemia | 0.5 mo | 2 mo |
| 323/F | ND | Yes | Hypocalcemic convulsions | At birth | 1.5 mo |
| 332/M | V-ATPase* | No | Hypocalcemic convulsions, splenomegaly | 0.5 mo | 5 mo |
| 364/F | ND | No | Visual impairment, anemia, thrombocytopenia | 5 mo | 6 mo |
| UPN/sex . | Genotype . | Positive family history . | Clinical abnormalities . | Age at diagnosis . | Age at transplantation . |
|---|---|---|---|---|---|
| 275/F | V-ATPase* | Yes | Hepatomegaly, anemia | 1 mo | 5.5 mo |
| 292/F | V-ATPase* | No | Visual impairment, hypocalcemic convulsions, hepatosplenomegaly, anemia, thrombocytopenia | 2 mo | 6 mo |
| 302/F | V-ATPase* | No | Visual impairment, hypocalcemic convulsions, hepatosplenomegaly, anemia | 1 mo | 3.5 mo |
| 303/F | V-ATPase* | No | Visual impairment, hepatosplenomegaly, hypocalcemia, anemia | 0.5 mo | 2 mo |
| 323/F | ND | Yes | Hypocalcemic convulsions | At birth | 1.5 mo |
| 332/M | V-ATPase* | No | Hypocalcemic convulsions, splenomegaly | 0.5 mo | 5 mo |
| 364/F | ND | No | Visual impairment, anemia, thrombocytopenia | 5 mo | 6 mo |
ND indicates not determined.
Mutations in the a3 subunit of the vacuolar H+-ATPase described in Kornak et al.3