| hm | homozygous | ht | heterozygous | tg | involves transgenes | √ | phenotype observed |
| cn | conditional genotype | cx | complex: > 1 genome feature | ot | other: hemizygous, indeterminate,... | N | normal phenotype |
Background:
| Affected Systems | |
|---|---|
craniofacial
|
√ |
|
abnormal cranium morphology
|
√ |
|
abnormal nasal bone morphology
|
√ |
|
triangular face
|
√ |
|
prominent forehead
|
√ |
|
short snout
|
√ |
|
growth/size/body
|
√ |
|
abnormal nasal bone morphology
|
√ |
|
triangular face
|
√ |
|
prominent forehead
|
√ |
|
short snout
|
√ |
|
decreased body size
|
√ |
|
postnatal growth retardation
|
√ |
|
hearing/vestibular/ear
|
√ |
|
abnormal tectorial membrane morphology
|
√ |
|
enlarged tectorial membrane
|
√ |
|
increased or absent threshold for auditory brainstem response
|
√ |
|
impaired hearing
|
√ |
|
nonsyndromic hearing loss
|
√ |
|
sensorineural hearing loss
|
√ |
|
respiratory system
|
√ |
|
abnormal nasal bone morphology
|
√ |
|
skeleton
|
√ |
|
abnormal cranium morphology
|
√ |
|
abnormal nasal bone morphology
|
√ |
|
disorganized long bone epiphyseal plate
|
√ |
|
abnormal chondrocyte morphology
|
√ |
|
abnormal articular cartilage morphology
|
√ |
