vision/eye
• atypical growth of blood vessels on the cornea
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• corneal inflammation seen by histological analysis
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• inner canthal distance is significantly larger in homozygous females
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• at 2 days of age the eyelids are either completely or partially open
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craniofacial
• female, but not male, homozygotes have a shorter mandible than sex-matched heterozygous controls
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immune system
• corneal inflammation seen by histological analysis
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skeleton
N |
• bone mineral density and bone mineral content are normal
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• female, but not male, homozygotes have a shorter mandible than sex-matched heterozygous controls
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hearing/vestibular/ear
N |
• ABR analysis of 2 homozygotes at 3 months of age indicates normal hearing
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adipose tissue
N |
• body composition of percent lean and percent fat are normal
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cardiovascular system
• atypical growth of blood vessels on the cornea
|