infantile choroidocerebral calcification syndrome
http://purl.obolibrary.org/obo/MONDO_0008981
This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. [ Orphanet:1313 ]
Term info
- GARD:0001313 (MONDO:equivalentTo)
- SCTID:724228005 (MONDO:equivalentTo)
- UMLS:C1859092 (Orphanet:1313)
- Orphanet:1313 (OMIM:215480)
- MESH:C535357 (MONDO:equivalentTo)
- OMIM:215480 (Orphanet:1313/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/5588
This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
http://identifiers.org/mesh/C535357, http://linkedlifedata.com/resource/umls/id/C1859092, http://purl.obolibrary.org/obo/Orphanet_1313, https://omim.org/entry/215480, http://identifiers.org/snomedct/724228005
http://purl.obolibrary.org/obo/MONDO_0000508
Choroido-cerebral calcification syndrome with retardation, choroid plexus calcification with intellectual disability, choroid plexus calcification and intellectual disability, choroid plexus calcification with mental retardation, choroid plexus calcification and mental retardation
MONDO:0008981