Affected Systems |
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behavior/neurological
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N
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behavior/neurological phenotype
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N
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cardiovascular system
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√
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√
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√
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√
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√
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abnormal blood vessel morphology
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√
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√
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abnormal pharyngeal arch artery morphology
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√
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√
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abnormal fourth pharyngeal arch artery morphology
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√
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√
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absent fourth pharyngeal arch artery
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√
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√
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fourth pharyngeal arch artery hypoplasia
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√
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√
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√
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absent sixth pharyngeal arch artery
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√
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√
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enlarged third pharyngeal arch artery
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√
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√
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abnormal aortic arch morphology
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√
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interrupted aortic arch, type b
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√
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√
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right aortic arch
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√
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√
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abnormal coronary artery morphology
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√
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√
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abnormal subclavian artery morphology
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√
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√
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aberrant origin of the right subclavian artery
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√
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retroesophageal right subclavian artery
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√
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√
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abnormal cardiac neural crest cell morphology
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√
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abnormal cardiac outflow tract development
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√
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√
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persistent truncus arteriosus
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√
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double outlet right ventricle
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√
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ventricular septal defect
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√
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abnormal heart valve morphology
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√
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cellular
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√
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√
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abnormal neural crest cell apoptosis
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√
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√
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craniofacial
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√
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√
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√
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√
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√
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abnormal craniofacial morphology
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√
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√
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abnormal pharyngeal arch artery morphology
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√
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√
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abnormal fourth pharyngeal arch artery morphology
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√
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√
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absent fourth pharyngeal arch artery
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√
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√
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fourth pharyngeal arch artery hypoplasia
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√
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√
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√
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absent sixth pharyngeal arch artery
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√
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√
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enlarged third pharyngeal arch artery
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√
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√
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absent interparietal bone
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√
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abnormal parietal bone morphology
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√
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abnormal hyoid bone morphology
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√
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abnormal mandible morphology
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√
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short mandible
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√
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pharyngeal arch hypoplasia
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√
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√
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abnormal palate morphology
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√
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cleft palate
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√
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abnormal tongue muscle morphology
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√
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decreased tongue size
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√
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digestive/alimentary system
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√
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√
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abnormal palate morphology
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√
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cleft palate
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√
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abnormal tongue muscle morphology
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√
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decreased tongue size
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√
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embryo
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N
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√
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√
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√
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√
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embryo phenotype
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N
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abnormal pharyngeal arch artery morphology
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√
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√
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abnormal fourth pharyngeal arch artery morphology
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√
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√
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absent fourth pharyngeal arch artery
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√
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√
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fourth pharyngeal arch artery hypoplasia
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√
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√
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√
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absent sixth pharyngeal arch artery
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√
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√
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enlarged third pharyngeal arch artery
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√
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√
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abnormal cardiac neural crest cell morphology
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√
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abnormal neural crest cell apoptosis
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√
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√
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pharyngeal arch hypoplasia
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√
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√
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endocrine/exocrine glands
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√
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thymus hypoplasia
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√
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athymia
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√
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growth/size/body
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√
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√
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abnormal palate morphology
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√
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cleft palate
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√
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abnormal tongue muscle morphology
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√
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decreased tongue size
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√
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hearing/vestibular/ear
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√
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abnormal otic capsule morphology
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√
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hematopoietic system
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√
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thymus hypoplasia
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|
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√
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athymia
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√
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immune system
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√
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thymus hypoplasia
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√
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athymia
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|
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√
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mortality/aging
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√
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√
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√
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neonatal lethality, complete penetrance
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|
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√
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postnatal lethality, complete penetrance
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|
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|
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|
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√
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√
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prenatal lethality, incomplete penetrance
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|
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|
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√
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√
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muscle
|
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√
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abnormal tongue muscle morphology
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√
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nervous system
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√
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√
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abnormal cardiac neural crest cell morphology
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√
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decreased motor neuron number
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√
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small trigeminal ganglion
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√
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abnormal facial nerve morphology
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√
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abnormal trigeminal nerve morphology
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√
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abnormal vestibulocochlear nerve morphology
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√
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skeleton
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√
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absent interparietal bone
|
|
|
|
√
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|
|
|
|
|
abnormal parietal bone morphology
|
|
|
|
√
|
|
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abnormal hyoid bone morphology
|
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|
√
|
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|
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|
abnormal mandible morphology
|
|
|
|
√
|
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short mandible
|
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√
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abnormal cartilage morphology
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√
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vision/eye
|
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√
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N
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√
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vision/eye phenotype
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N
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decreased cornea thickness
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√
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abnormal lens induction
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√
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small lens
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√
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failure of eyelid fusion
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√
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