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hepatic fibrosis-renal cysts-intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Mondo Term and Equivalent IDs
MONDO:0008941:  hepatic fibrosis-renal cysts-intellectual disability syndrome
GARD:0005177: 
MESH:C565867: 
Orphanet:2031: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found