syndromic intellectual disability syndromic disease hepatic fibrosis-renal cysts-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6000 https://www.malacards.org/card/cerebellar_vermis_aplasia_with_associated_features_suggesting_smith_lemli_opitz_syndrome_and_meckel_syndrome https://www.malacards.org/card/hepatic_fibrosis_renal_cysts_intellectual_disability_syndrome 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. MEDGEN:347120 MESH:C565867 Thompson-Baraitser syndrome OMIM:213010 MONDO:0008941 GARD:0005177 Thompson Baraitser syndrome UMLS:C1859300 Orphanet:2031 obsolete hereditary parenchymatous liver disease familial cystic renal disease