hepatic fibrosis-renal cysts-intellectual disability syndrome
http://purl.obolibrary.org/obo/MONDO_0008941
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. [ Orphanet:2031 https://orcid.org/0000-0001-5208-3432 ]
Term info
- OMIM:213010 (Orphanet:2031/e)
- GARD:0005177 (MONDO:shared-umls-xref)
- Orphanet:2031 (OMIM:213010)
- MESH:C565867 (MONDO:equivalentTo)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/6000
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.
http://identifiers.org/mesh/C565867, https://omim.org/entry/213010, http://purl.obolibrary.org/obo/Orphanet_2031
http://purl.obolibrary.org/obo/MONDO_0019741, http://purl.obolibrary.org/obo/MONDO_0015508, http://purl.obolibrary.org/obo/MONDO_0000508
Thompson Baraitser syndrome, Thompson-Baraitser syndrome
cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome
MONDO:0008941