Table 2.
Frequency of clinical features associated with RMND1 mutations (n=32)
| Clinical features | Percentage | ||
|---|---|---|---|
| Present | Absent | Not stated | |
| Neurological and developmental | |||
| Hypotonia | 75 | 16 | 9 |
| Sensorineural hearing loss | 72 | 6 | 22 |
| Developmental delay | 75 | – | 25 |
| Seizure | 44 | 44 | 12 |
| Failure to thrive | 53 | 19 | 28 |
| Microcephaly | 41 | 34 | 25 |
| Peripheral spasticity | 19 | 56 | 25 |
| Lactic acidaemia | 62 | 19 | 19 |
| Renal | 66 | 34 | – |
| Gastrointestinal | 47 | 25 | 28 |
| Dysmorphic appearance/ congenital deformity | 41 | 28 | 31 |
| Hypertension | 47 | 25 | 28 |
| Cardiac | 38 | 41 | 21 |