Family

1

2

3

4

5

Our case 1

Our case 2

Age

14 years

4 years

10 years

24 months

14 years

3 years

2 years

Sex

male

female

Female

male

male

male

female

Consanguineous

no

yes

yes

yes

no

yes

yes

Ethnicity

Puerto Rica

Lebanese

Lebanese

Egyptian

Puerto Rica

Saudi

Saudi

Developmental

 Severely delayed

profound

profound

profound

profound

profound

profound

Seizure

+

+

+

No

+

+

+

Hypotonia

+

+

+

+

+

+

+

Vision

Cataract, blindness

Vision impairment

Vision impairment

Bilateral optic atrophy

Vision impairment

No vision impairment

Vision impairment

Dysmorphasic

MRI brain

ventriculomegaly decreased white-matter volume and  thin corpus callosum

ventriculomegaly,  thin but  complete corpus callosum, and mild cerebellar vermis hypoplasia

ventriculomegaly, thin but complete corpus callosum, and mild cerebellar vermis hypoplasia

ventriculomegaly, absent corpus callosum, and mild cerebellar vermis hypoplasia

ventriculomegaly,  thin corpus callosum, and mild cerebellar vermis hypoplasia

bilateral diffuse loss of the normal cerebral white matter

periventricular leukomalacia, and white-matter changes

TBCK  mutation

c.376C > T (p.Arg126

c.1363A > T (p.Lys455

c.1363A > T (p.Lys455

c.1532G > A (p.Arg511

 c.376C > T (p.Arg126

c.1897+1G > A

c.1897+1G > A