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Czeizel-Losonci syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
Mondo Term and Equivalent IDs
MONDO:0008467:  Czeizel-Losonci syndrome
GARD:0004969: 
MESH:C566662: 
Orphanet:2437: 
UMLS:C1866739: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found