Table 1 Demographics and clinical features of the patients with inherited neurotransmitter disorders and non-neurotransmitter disorders

Number of patients

6

14

Average age of onset (range)

3.8 ± 6.0 SD months (1 day to 17 months)

10.5 ± 16.2 SD months (1 day to 60 months)

Average age of diagnosis (range)

26.5 ± 42.6 SD months (1 to 120 months)

75.3 ± 64.8 SD months (7 to 216 months)

Current average age (range)

5.8 ± 4.4 SD years (1 to 14 years)

10.3 ± 6.4 SD years (3 to 19 years)

Inheritance pattern

AR (5 patients, 83%) AD (1 patient, 17%)

AR (6 patients, 43%) AD (5 patients, 36%) X-linked (1 patient, 7%) Other (2 patients, 14%)

Clinical features

Newborn screening positive for PKU

2 patients (33%)

None

Movement disorder and/or GDD

2 patients (33%)

5 patients (36%)

GDD and/or epilepsy

2 patients (33%)

8 patients (57%)

Neonatal hypotonia

None (0%)

1 patient (7%)