absence deformity of leg-cataract syndrome
Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
MONDO:0003847
hereditary disease
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MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
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