No abstract available
MeSH terms
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Atrophy / genetics
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Cerebellum / diagnostic imaging
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Cerebellum / pathology*
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Exome / genetics
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Eye Abnormalities / diagnostic imaging
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Eye Abnormalities / genetics*
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Heterozygote
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Humans
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Infant
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Kinesins / genetics*
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Magnetic Resonance Imaging
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Male
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Mutation, Missense*
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Optic Nerve / abnormalities*
Substances
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KIF1A protein, human
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Kinesins