growth/size/body
• considerably reduced
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skeleton
• malformed basioccipital bones in 1/3 of double homozygotes
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• ectopic anterior arch on C3 in 83% of homozygotes
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• basioccipital bone sometimes fuses to anterior arch of C1
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reproductive system
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• homozygous males are infertile but homozygous females are fertile
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craniofacial
• malformed basioccipital bones in 1/3 of double homozygotes
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• basioccipital bone sometimes fuses to anterior arch of C1
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