| Family | Ethnicity | No. | Psychomotor development | Speech development | ID | Hypotonia | Brain MRI findings | Autistic behaviour | Seizure | TMTC3 mutation | Reference |
| 1 | Egypt | 1.1 | Delayed | Delayed | + | + | Cobblestone lissencephaly, ventriculomegaly, encephalocele, brainstem hypoplasia, cerebellar dysplasia | | GTC | c.1462delA/c.2617C > T | Jerber et al. [3] | 2 | Yemen | 2.1 | Delayed | Delayed | + | + | Cobblestone lissencephaly, ventriculomegaly, brainstem hypoplasia, cerebellar hypoplasia | + | GTC | c.1959_1960insTT | Jerber et al. [3] | | 2.2 | Delayed | Delayed | + | + | Cobblestone lissencephaly, ventriculomegaly, brainstem hypoplasia, cerebellar hypoplasia | + | GTC | c.1959_1960insTT | Jerber et al. [3] | 3 | Egypt | 3.1 | Delayed | No speech | + | + | Cobblestone lissencephaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar hypoplasia, retrocerebellar cysts | − | Myoclonic | c.1686_1701del | Jerber et al. [3] | 4 | Lebanon | 4.1 | Delayed | No speech | + | + | Ventriculomegaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar dysplasia, hypomyelination | | − | c.199C > G | Jerber et al. [3] | 4.2 | Delayed | No speech | + | + | Ventriculomegaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar dysplasia, hypomyelination | | − | c.199C > G | Jerber et al. [3] | 5 | Turkey | 5.1 | Delayed | Delayed | + | + | Cobblestone lissencephaly, ventriculomegaly | − | − | c.3G > A | Jerber et al. [3] | 5.2 | Delayed | Delayed | + | + | Cobblestone lissencephaly | − | GTC | c.3G > A | Jerber et al. [3] | 6 | USA | 6.1 | Delayed | No speech | + | + | Cobblestone lissencephaly, ventriculomegaly, encephalocele | − | Infantile spasms | c.1151G > A/c.2521dupA | Jerber et al. [3] | 7 | Pakistan | 7.1 | − | − | + | | Bilateral periventricular heterotopia | − | Nocturnal seizures | c.432G > C/c.2183T > A | Farhan et al. [4] | 7.2 | − | − | + | | Bilateral periventricular heterotopia, venous anomaly | − | Nocturnal seizures | c.432G > A/c.2183T > A | Farhan et al. [4] | 7.3 | − | Delayed | + | | Bilateral periventricular heterotopia, Arnold-Chiari type I malformation | − | Nocturnal seizures | c.432G > A/c.2183T > A | Farhan et al. [4] | 7.4 | − | − | + | | Normal MRI | − | Nocturnal seizures | c.432G > A/c.2183T > A | Farhan et al. [4] | 8 | Lebanon | 8.1 | Delayed | No speech | + | + | Arnold-Chiari type I malformation | + | Nocturnal seizures | c.211C > T | This study | 8.2 | Delayed | No speech | + | + | Normal MRI | + | Nocturnal seizures | c.211C > T | This study |
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