Affected Systems |
|
|
|
|
cellular
|
|
|
√
|
abnormal neural crest cell migration
|
|
|
√
|
abnormal neural crest cell delamination
|
|
|
√
|
craniofacial
|
|
√
|
|
abnormal basioccipital bone morphology
|
|
√
|
|
abnormal interparietal bone morphology
|
|
√
|
|
abnormal exoccipital bone morphology
|
|
√
|
|
embryo
|
√
|
√
|
√
|
embryo phenotype
|
|
|
N
|
abnormal neural crest cell migration
|
|
|
√
|
abnormal neural crest cell delamination
|
|
|
√
|
delayed neural tube closure
|
|
√
|
|
abnormal rhombomere morphology
|
√
|
√
|
|
decreased rhombomere 4 size
|
√
|
|
|
decreased rhombomere 5 size
|
√
|
|
|
abnormal rhombomere boundary morphology
|
√
|
|
|
hearing/vestibular/ear
|
√
|
√
|
|
abnormal otic vesicle morphology
|
√
|
|
|
small otic vesicle
|
|
√
|
|
abnormal inner ear morphology
|
|
√
|
|
abnormal cochlea morphology
|
|
√
|
|
abnormal cochlear sensory epithelium morphology
|
|
√
|
|
absent cochlea
|
|
√
|
|
absent common crus
|
|
√
|
|
absent posterior semicircular canal
|
|
√
|
|
abnormal crista ampullaris morphology
|
|
√
|
|
absent superior semicircular canal
|
|
√
|
|
absent semicircular canals
|
|
√
|
|
abnormal inner ear vestibule morphology
|
|
√
|
|
abnormal membranous labyrinth morphology
|
|
√
|
|
absent scala media
|
|
√
|
|
abnormal utricular macula morphology
|
|
√
|
|
absent utricle
|
|
√
|
|
abnormal vestibular saccular macula morphology
|
|
√
|
|
absent vestibular saccule
|
|
√
|
|
absent endolymphatic duct
|
|
√
|
|
absent endolymphatic sac
|
|
√
|
|
abnormal otic capsule morphology
|
|
√
|
|
abnormal tympanic ring morphology
|
|
√
|
|
homeostasis/metabolism
|
|
√
|
|
cyanosis
|
|
√
|
|
anoxia
|
|
√
|
|
mortality/aging
|
|
√
|
|
perinatal lethality, complete penetrance
|
|
√
|
|
muscle
|
|
√
|
N
|
muscle phenotype
|
|
|
N
|
muscle spasm
|
|
√
|
|
nervous system
|
√
|
√
|
|
delayed neural tube closure
|
|
√
|
|
abnormal rhombomere morphology
|
√
|
√
|
|
decreased rhombomere 4 size
|
√
|
|
|
decreased rhombomere 5 size
|
√
|
|
|
abnormal rhombomere boundary morphology
|
√
|
|
|
abnormal hindbrain morphology
|
|
√
|
|
absent facial nuclei
|
|
√
|
|
abnormal cranial ganglia morphology
|
√
|
|
|
absent cochlear ganglion
|
|
√
|
|
abnormal superior vagus ganglion morphology
|
|
√
|
|
small vestibular ganglion
|
|
√
|
|
abnormal cranial nerve morphology
|
|
√
|
|
absent facial nerve
|
|
√
|
|
abnormal glossopharyngeal nerve morphology
|
|
√
|
|
abnormal vagus nerve morphology
|
|
√
|
|
absent vestibulocochlear nerve
|
|
√
|
|
respiratory system
|
|
√
|
|
respiratory failure
|
|
√
|
|
skeleton
|
|
√
|
|
abnormal basioccipital bone morphology
|
|
√
|
|
abnormal interparietal bone morphology
|
|
√
|
|
abnormal exoccipital bone morphology
|
|
√
|
|