craniofacial
• open posterior frontal suture
|
• calvarial defect surrounding the posterior frontal suture
|
• persistent anterior fontanelle
|
• hard tissue anomalies in frontal bone
|
• slight change in pterygoid bone morphology seen in ortho-slices anterior to the coronal suture; angle of the medial aspect of the pterygoid bone relative to the ventrolateral is altered
|
• expanded cranial vault
|
• variable position of the mandible with respect to the skull (excluded from analysis)
|
narrow face
(
J:306391
)
• reduced facial width
|
• reduced midfacial width
|
• mild midfacial hypoplasia
|
• hypoplasia of the nasal region
|
skeleton
• open posterior frontal suture
|
• calvarial defect surrounding the posterior frontal suture
|
• persistent anterior fontanelle
|
• hard tissue anomalies in frontal bone
|
• slight change in pterygoid bone morphology seen in ortho-slices anterior to the coronal suture; angle of the medial aspect of the pterygoid bone relative to the ventrolateral is altered
|
• expanded cranial vault
|
• variable position of the mandible with respect to the skull (excluded from analysis)
|
growth/size/body
narrow face
(
J:306391
)
• reduced facial width
|
• reduced midfacial width
|
• mild midfacial hypoplasia
|
• hypoplasia of the nasal region
|
respiratory system
• hypoplasia of the nasal region
|
mortality/aging
N |
• mice survive into adulthood
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
KBG syndrome | DOID:14780 |
OMIM:148050 |
J:306391 |