| 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 | ||
|---|---|---|
cardiovascular system
|
√ | |
|
enlarged heart
|
√ | |
|
abnormal heart valve morphology
|
√ | |
|
enlarged aortic valve
|
√ | |
|
aortic valve hypertrophy
|
√ | |
|
thick aortic valve
|
√ | |
|
enlarged pulmonary valve
|
√ | |
|
pulmonary valve hypertrophy
|
√ | |
|
thick pulmonary valve
|
√ | |
|
pathological neovascularization
|
√ | |
|
digestive/alimentary system
|
√ | |
|
digestive/alimentary phenotype
|
N | |
|
enlarged esophagus
|
√ | |
|
endocrine/exocrine glands
|
√ | |
|
absent Meibomian glands
|
√ | |
|
growth/size/body
|
√ | |
|
enlarged heart
|
√ | |
|
enlarged esophagus
|
√ | |
|
immune system
|
√ | |
|
increased incidence of corneal inflammation
|
√ | |
|
dermatitis
|
√ | |
|
integument
|
√ | √ |
|
absent Meibomian glands
|
√ | |
|
dermatitis
|
√ | |
|
abnormal coat/ hair morphology
|
√ | |
|
waved hair
|
√ | |
|
abnormal hair follicle development
|
√ | |
|
vision/eye
|
√ | √ |
|
increased incidence of corneal inflammation
|
√ | |
|
abnormal eye morphology
|
√ | |
|
absent Meibomian glands
|
√ | |
|
abnormal anterior eye segment morphology
|
√ | |
|
abnormal canal of Schlemm morphology
|
√ | |
|
absent Schlemm's canal
|
√ | |
|
abnormal cornea morphology
|
√ | |
|
anterior iris synechia
|
√ | |
|
absent Descemet membrane
|
√ | |
|
absent cornea endothelium
|
√ | |
|
abnormal cornea epithelium morphology
|
√ | |
|
decreased cornea thickness
|
√ | |
|
cornea opacity
|
√ | |
|
cornea scarring
|
√ | |
|
lens vacuoles
|
√ | |
|
aphakia
|
√ | |
|
cataract
|
√ | |
|
failure of eyelid fusion
|
√ | |
|
microphthalmia
|
√ | |
|
abnormal eyelid margin morphology
|
√ | |
|
eyelids open at birth
|
√ | √ |
|
abnormal retina morphology
|
√ | |
|
anophthalmia
|
√ |
