hereditary disease absence deformity of leg-cataract syndrome https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/absence_deformity_of_leg_cataract_syndrome https://www.malacards.org/card/leg_absence_deformity_of_with_congenital_cataract MESH:C565442 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. UMLS:C1855523 OMIM:246000 GARD:0016593 Orphanet:2310 MEDGEN:343374 MONDO:0009516 dysostosis congenital limb malformation