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 |