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lower limb deficiency-hypospadias syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
Mondo Term and Equivalent IDs
MONDO:0016639:  lower limb deficiency-hypospadias syndrome
MESH:C535640: 
Orphanet:2487: 
UMLS:C2930962: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found