Affected Systems |
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cardiovascular system
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√
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√
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transposition of great arteries
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√
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√
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ventricular septal defect
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√
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perimembraneous ventricular septal defect
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√
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cellular
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√
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decreased primordial germ cell number
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√
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abnormal primordial germ cell migration
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√
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craniofacial
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√
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abnormal cranium morphology
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√
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increased cranium width
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√
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abnormal jaw morphology
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√
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abnormal mandible morphology
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√
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abnormal mandibular angle morphology
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√
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abnormal mandibular condyloid process morphology
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√
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short mandible
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√
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abnormal maxilla morphology
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√
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abnormal middle ear ossicle morphology
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√
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abnormal malleus morphology
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√
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abnormal craniofacial development
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√
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abnormal Meckel's cartilage morphology
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√
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short Meckel's cartilage
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√
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abnormal nasal capsule morphology
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√
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midface hypoplasia
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√
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cleft secondary palate
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√
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failure of palatal shelf elevation
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√
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digestive/alimentary system
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√
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cleft secondary palate
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√
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failure of palatal shelf elevation
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√
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embryo
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√
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decreased embryo size
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√
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abnormal somite development
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√
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abnormal somite shape
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√
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abnormal somite size
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√
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small tail bud
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√
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growth/size/body
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√
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abnormal nasal capsule morphology
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√
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midface hypoplasia
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√
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cleft secondary palate
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√
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failure of palatal shelf elevation
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√
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decreased embryo size
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√
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hearing/vestibular/ear
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√
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√
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abnormal middle ear ossicle morphology
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√
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abnormal malleus morphology
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√
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abnormal organ of Corti morphology
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√
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abnormal cochlear hair cell morphology
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√
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abnormal cochlear outer hair cell morphology
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√
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abnormal tegmen tympani morphology
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√
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homeostasis/metabolism
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√
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abnormal blood homeostasis
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√
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cyanosis
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√
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limbs/digits/tail
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√
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√
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small tail bud
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√
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abnormal limb morphology
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√
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abnormal autopod morphology
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√
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brachyphalangia
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√
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brachydactyly
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√
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polydactyly
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√
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abnormal forelimb stylopod morphology
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√
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abnormal forelimb zeugopod morphology
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√
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short radius
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√
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short ulna
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√
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abnormal hindlimb stylopod morphology
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√
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abnormal hindlimb zeugopod morphology
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√
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short metacarpal bones
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√
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short tail
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√
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mortality/aging
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√
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√
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neonatal lethality, complete penetrance
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√
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perinatal lethality, incomplete penetrance
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√
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nervous system
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√
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abnormal cochlear hair cell morphology
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√
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abnormal cochlear outer hair cell morphology
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√
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reproductive system
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√
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decreased primordial germ cell number
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√
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abnormal primordial germ cell migration
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√
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genital tubercle hypoplasia
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√
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respiratory system
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√
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abnormal nasal capsule morphology
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√
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abnormal pulmonary alveolus morphology
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√
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respiratory distress
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√
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skeleton
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√
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√
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√
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abnormal cranium morphology
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√
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increased cranium width
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|
√
|
|
abnormal jaw morphology
|
|
√
|
|
abnormal mandible morphology
|
|
√
|
|
abnormal mandibular angle morphology
|
|
√
|
|
abnormal mandibular condyloid process morphology
|
|
√
|
|
short mandible
|
|
√
|
|
abnormal maxilla morphology
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|
√
|
|
abnormal middle ear ossicle morphology
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|
√
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abnormal malleus morphology
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√
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abnormal long bone morphology
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√
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decreased length of long bones
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√
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brachyphalangia
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√
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short radius
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√
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short ulna
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√
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short metacarpal bones
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√
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absent sternum
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√
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abnormal pubic symphysis morphology
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√
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abnormal rib morphology
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√
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rib fusion
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√
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abnormal vertebrae morphology
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√
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abnormal sacral vertebrae morphology
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√
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sacral vertebral fusion
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√
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small sacral vertebrae
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√
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abnormal vertebrae development
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√
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abnormal cartilage morphology
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√
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√
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abnormal Meckel's cartilage morphology
|
|
√
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short Meckel's cartilage
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|
√
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abnormal nasal capsule morphology
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|
√
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abnormal cartilage development
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√
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√
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abnormal long bone epiphyseal plate proliferative zone
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√
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decreased width of hypertrophic chondrocyte zone
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√
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abnormal chondrocyte morphology
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√
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delayed chondrocyte differentiation
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√
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delayed bone ossification
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√
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vision/eye
|
|
√
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ocular hypertelorism
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√
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