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Features of tubulin and microtubule-associated gene mutations
Tubulin Mutations MAP Mutations
TUBA1A TUBB2B TUBB3 LIS1 DCX DYNC1H1
Dysmorphic/absent corpus callosum 8/8^{^a} 5/5 2/5 5/5^{^b} 1/4 6/6^{^c}
Thin corpus callosum 4/5 4/5 4/5 0/5 2/4 1/6^{^d}
Dysgyric cerebral cortex 4/7^{^e} 4/5 5/5 0/5 0/4 0/6
Pachygyric/agyric cerebral cortex 4/7^{^e} 0/5 3/5 5/5^{^f} 4/4^{^g} 6/6^{^h}
Small cerebellar vermis 8/8 5/5^ⁱ 4/5 2/5^ⁱ 0/4 3/6^ⁱ
Small cerebellar hemisphere 5/8 1/5 1/5^{^j} 0/5 0/4 0/6
Small brain stem 7/8^{^k} 5/5^{^l} 5/5^{^m} 3/5^ⁿ 0/3^{^o} 3/6^{^l}
Large tectum 4/8 1/5 1/5 0/5 0/4 0/6
Mild ventriculomegaly 1/8 2/5 0/5 0/5 0/4 2/6
Moderate ventriculomegaly 3/8 1/5 1/5 0/5 0/4 0/6
Severe ventriculomegaly 4/8 0/5 1/5 0/5 0/4 0/6
↵a Corpus callosum absent 3/8.
↵b L-shaped corpus callosum 4/5.
↵c L-shaped corpus callosum 3/6.
↵d Thick corpus callosum 5/6.
↵e In 1 patient, poor gray-white differentiation precludes accurate cortical assessment.
↵f Complete agyria 1/5; posterior agyria and anterior pachygyria 4/5.
↵g Complete agyria 1/4; anterior pachygyria 3/4.
↵h Posterior pachygyria 6/6.
↵i Small anterior vermis in all cases.
↵j Dysmorphic vermis.
↵k Asymmetric 3/8.
↵l Small pons in all cases.
↵m Asymmetric in all cases.
↵n Diffusely thin brain stem 2/5, small pons 1/5.
↵o Brain stem not well-visualized, 1 case.