Table 4.

Phenotype of 29 patients with neurological diseases.

Patient No.	Age range	Phenotypes
1	2–4	Gait instability, worse in the dark; dystonia
2	0–2	Intellectual disability; hearing abnormity; congenital cataract; talipes equinovarus; brain atrophy
3	>4	Intellectual disability; dark skin; abnormal facial shape
4	2–4	Global development delay; autism; optic atrophy; gait disturbance
5	0–2	Intellectual disability; abnormal facial shape; dystonia; muscle weakness
6	>4	Seizures; epileptic encephalopathy; intellectual disability; microcephaly
7	2–4	Intellectual disability; abnormal facial shape; autism
8	>4	Intellectual disability; short stature
9	0–2	Seizures; Intellectual disability; microcephaly; abnormal ear morphology
10	2–4	Seizures; Intellectual disability; abnormality of metabolism/homeostasis
11	0–2	Intellectual disability; seizures
12	0–2	Intellectual disability; hypertonia; esotropia; abnormality of metabolism/homeostasis
13	>4	Delayed gross motor development; Intellectual disability; agenesis of corpus callosum
14	>4	Intellectual disability; cryptorchidism; Short stature
15	2–4	Intellectual disability; autism
16	2–4	Intellectual disability; autism
17	0–2	Intellectual disability; elevated urine guanidinoacetic acid
18	2–4	Delayed gross motor development; Intellectual disability, ulnar claw
19	0–2	Seizures; global development delay; high palate
20	2–4	Seizures
21	>4	Intellectual disability; autism
22	>4	Seizures; glutaric aciduria
23	0–2	Seizures (VB6 improvement); intellectual disability; dyspepsia
24	0–2	Intellectual disability; microcephaly; abnormality of metabolism/homeostasis
25	0–2	Seizures; intellectual disability; vitamin B6 deficiency
26	2–4	Intellectual disability; cerebellar atrophy
27	2–4	Seizure; arachnoid cyst
28	0–2	Intellectual disability; autism
29	0–2	Multiple-malformation; dystonia