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spina bifida-hypospadias syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
Mondo Term and Equivalent IDs
MONDO:0017857:  spina bifida-hypospadias syndrome
Orphanet:3176: 
UMLS:CN203872: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found