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. Author manuscript; available in PMC: 2022 Dec 1.
Published in final edited form as: Hum Genet. 2021 Oct 15;140(12):1709–1731. doi: 10.1007/s00439-021-02379-9

Table 3:

MRI findings. NB: newborn; EOMs: extraocular muscles

Subject I IV VI VII IX X XI XII XIII
Age at imaging NB 12m 2y 7y 12y 12y 14y 14y 17y
Corpus callosum hypoplasia + + + + + + + + +
Basal ganglia dysgenesis + + + + + + + + +
Lateral ventricle asymmetry + + + + + + + + +
Sylvian fissure asymmetry + + + +
Hippocampal malrotation + + + + +
White matter hypoplasia + + + + +
Absent olfactory bulbs and sulci + + + + + + + +
Cerebellar asymmetry/dysmorphism + + + + + + + +
Pons small + + + + +
CN3 absent + + + + + + +
CN7 absent/hypoplastic + + + + + + +
CN8 abnormal + +
Cochlea abnormal + +
EOMs small + + + + + + + + +