limbs/digits/tail
|
|
• the expression of polydactyly varies from a barely discernible thickened hallux or elongated first toe on one feet to multiple extra toes on both hind feet
(J:6343)
• Background Sensitivity: penetrance is 90-95% on this background
(J:6343)
• preaxial polydactyly of the hind feet
(J:24756)
|
|
|
• one or both hind legs may be twisted resulting in abnormal positioning of the feet
(J:6343)
• 42% of hemizygous males and 12% of heterozygous females display hemimelia
(J:6343)
• tibial hemimelia of one or both hind legs
(J:24756)
|
endocrine/exocrine glands
cryptorchism
(
J:6343
)
|
|
• in all males, causing infertility
|
renal/urinary system
kidney cyst
(
J:6343
)
|
|
• observed in some males
|
hydronephrosis
(
J:6343
)
|
|
• observed in some males
|
absent kidney
(
J:6343
)
|
|
• observed in some males
|
hydroureter
(
J:6343
)
|
|
• observed in some males
|
reproductive system
cryptorchism
(
J:6343
)
|
|
• in all males, causing infertility
|
growth/size/body
kidney cyst
(
J:6343
)
|
|
• observed in some males
|


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