mortality/aging
|
• within 1 month of birth
|
behavior/neurological
head bobbing
(
J:208
)
hearing/vestibular/ear
|
• thin semicircular canals
|
|
• development of excessive mesenchymal tissue followed by collapse of endolymphatic space and degeneration of membraneous labyrinth
|
limbs/digits/tail
syndactyly
(
J:208
)
|
• variable penetrance
• usually of digits 2 and 3 or 3 and 4
|
skeleton
|
• thin long bones
|
synostosis
(
J:12945
)
|
• synostosis of phalanges
• variable penetrance
|


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