Table 2.
Neurological and neuropsychiatric features of female carriers of NHE6 mutations
| Diagnosis | Carriers, n | Carriers, % (n = 20) | Pedigrees, n | Pedigrees, % (n = 9) |
|---|---|---|---|---|
| Intellectual disability (ID)/developmental delay (DD) | 4 | 20 | 4 | 44 |
| Learning difficulties (if no ID/DD diagnosis) | 5 | 31a | 2 | 22 |
| Speech/language delay | 6 | 30 | 5 | 56 |
| Attention-deficit/hyperactivity disorder | 4 | 20 | 4 | 44 |
| Schizoaffective disorder | 2 | 10 | 1 | 11 |
| Autism spectrum disorder | 2 | 10 | 2 | 22 |
| Seizure disorder | 1 | 5 | 1 | 11 |
| Microcephaly | 1 | 5 | 1 | 11 |
| Ataxia | 2 | 10 | 2 | 22 |
| Hypotonia | 2 | 10 | 2 | 22 |
| Neuropathy | 2 | 10 | 2 | 22 |
| Eye problems (e.g., ophthalmoplegia) | 4 | 20 | 4 | 44 |
a
Percentage calculated in 16 participants (i.e., does not include carriers diagnosed with ID/DD).