Affected Systems |
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cellular
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√
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abnormal primary cilium morphology
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√
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craniofacial
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√
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abnormal craniofacial morphology
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√
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|
abnormal cranium morphology
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√
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abnormal basisphenoid bone morphology
|
√
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impaired ossification of basisphenoid bone
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√
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short Meckel's cartilage
|
√
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abnormal cranial cartilage development
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√
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small frontal bone
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√
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small parietal bone
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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 maxilla morphology
|
√
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decreased maxillary shelf size
|
√
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|
abnormal premaxilla morphology
|
√
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|
small maxilla
|
√
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|
abnormal palatine bone morphology
|
√
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|
small zygomatic bone
|
√
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|
abnormal facial morphology
|
√
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|
absent nasal bone
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√
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small nasal bone
|
√
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abnormal palatal mesenchymal cell proliferation
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√
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|
abnormal palatal shelf morphology
|
√
|
|
abnormal palatal shelf bone ossification
|
√
|
|
palatal shelves fail to meet at midline
|
√
|
|
cleft upper lip
|
√
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|
unilateral cleft upper lip
|
√
|
|
abnormal palatal rugae morphology
|
√
|
|
cleft palate
|
√
|
|
cleft secondary palate
|
√
|
|
abnormal palatal shelf elevation
|
√
|
|
abnormal tongue morphology
|
√
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|
abnormal tongue position
|
√
|
|
decreased tongue size
|
√
|
|
abnormal nasal septum cartilage morphology
|
√
|
|
abnormal vomeronasal cartilage morphology
|
√
|
|
abnormal vomeronasal organ morphology
|
√
|
|
large nasal septum
|
√
|
|
thick nasal septum
|
√
|
|
abnormal snout morphology
|
√
|
|
broad snout
|
√
|
|
short snout
|
√
|
|
abnormal head shape
|
√
|
|
digestive/alimentary system
|
√
|
|
decreased maxillary shelf size
|
√
|
|
abnormal palatal mesenchymal cell proliferation
|
√
|
|
abnormal palatal shelf morphology
|
√
|
|
abnormal palatal shelf bone ossification
|
√
|
|
palatal shelves fail to meet at midline
|
√
|
|
abnormal palatal rugae morphology
|
√
|
|
cleft palate
|
√
|
|
cleft secondary palate
|
√
|
|
abnormal palatal shelf elevation
|
√
|
|
abnormal tongue morphology
|
√
|
|
abnormal tongue position
|
√
|
|
decreased tongue size
|
√
|
|
embryo
|
√
|
√
|
abnormal neural tube morphology
|
√
|
|
absent floor plate
|
√
|
√
|
growth/size/body
|
√
|
|
abnormal facial morphology
|
√
|
|
decreased maxillary shelf size
|
√
|
|
absent nasal bone
|
√
|
|
small nasal bone
|
√
|
|
abnormal palatal mesenchymal cell proliferation
|
√
|
|
abnormal palatal shelf morphology
|
√
|
|
abnormal palatal shelf bone ossification
|
√
|
|
palatal shelves fail to meet at midline
|
√
|
|
cleft upper lip
|
√
|
|
unilateral cleft upper lip
|
√
|
|
abnormal palatal rugae morphology
|
√
|
|
cleft palate
|
√
|
|
cleft secondary palate
|
√
|
|
abnormal palatal shelf elevation
|
√
|
|
abnormal tongue morphology
|
√
|
|
abnormal tongue position
|
√
|
|
decreased tongue size
|
√
|
|
abnormal nasal septum cartilage morphology
|
√
|
|
abnormal vomeronasal cartilage morphology
|
√
|
|
abnormal vomeronasal organ morphology
|
√
|
|
large nasal septum
|
√
|
|
thick nasal septum
|
√
|
|
abnormal snout morphology
|
√
|
|
broad snout
|
√
|
|
short snout
|
√
|
|
abnormal head shape
|
√
|
|
limbs/digits/tail
|
√
|
√
|
preaxial polydactyly
|
√
|
√
|
mortality/aging
|
√
|
|
prenatal lethality, complete penetrance
|
√
|
|
nervous system
|
√
|
√
|
abnormal vomeronasal organ morphology
|
√
|
|
abnormal neural tube morphology
|
√
|
|
absent floor plate
|
√
|
√
|
exencephaly
|
√
|
|
optic nerve hypoplasia
|
√
|
|
respiratory system
|
√
|
|
absent nasal bone
|
√
|
|
small nasal bone
|
√
|
|
abnormal nasal septum cartilage morphology
|
√
|
|
abnormal vomeronasal cartilage morphology
|
√
|
|
abnormal vomeronasal organ morphology
|
√
|
|
large nasal septum
|
√
|
|
thick nasal septum
|
√
|
|
skeleton
|
√
|
|
abnormal cranium morphology
|
√
|
|
abnormal basisphenoid bone morphology
|
√
|
|
impaired ossification of basisphenoid bone
|
√
|
|
short Meckel's cartilage
|
√
|
|
abnormal cranial cartilage development
|
√
|
|
small frontal bone
|
√
|
|
small parietal bone
|
√
|
|
abnormal mandible morphology
|
√
|
|
short mandible
|
√
|
|
abnormal maxilla morphology
|
√
|
|
decreased maxillary shelf size
|
√
|
|
abnormal premaxilla morphology
|
√
|
|
small maxilla
|
√
|
|
absent nasal bone
|
√
|
|
small nasal bone
|
√
|
|
abnormal palatine bone morphology
|
√
|
|
small zygomatic bone
|
√
|
|
abnormal nasal septum cartilage morphology
|
√
|
|
abnormal vomeronasal cartilage morphology
|
√
|
|
abnormal intramembranous bone ossification
|
√
|
|
abnormal palatal shelf bone ossification
|
√
|
|
delayed intramembranous bone ossification
|
√
|
|
vision/eye
|
√
|
|
optic nerve hypoplasia
|
√
|
|
abnormal eye development
|
√
|
|
microphthalmia
|
√
|
|
anophthalmia
|
√
|
|