{"orpha":85186,"name":"Endosteal sclerosis-cerebellar hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","url":"https://raremap.alftech.space/d/ORPHA-85186/","orphanet_url":"https://www.orpha.net/en/disease/detail/85186","names":{"fr":{"name":"Syndrome de sclérose endostéale-hypoplasie cérébelleuse"},"de":{"name":"Endosteale Sklerose-zerebelläre Hypoplasie-Syndrom"},"es":{"name":"Síndrome de hipoplasia cerebelosa-esclerosis endosteal"},"it":{"name":"Sclerosi endostale - ipoplasia cerebellare"},"nl":{"name":"Endosteale sclerose - cerebellaire hypoplasie-syndroom"},"pt":{"name":"Síndrome de esclerose endosteal-hipoplasia cerebelosa"},"pl":{"name":"Stwardnienie śródkostne- hipoplazja móżdżku"},"cs":{"name":"Syndrom zahrnující endosteální sklerózu a hypoplázii mozečku"},"uk":{"name":"Синдром ендостального склерозу-гіпоплазії мозочка","definition":"Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait."},"zh":{"name":"内膜硬化-小脑发育不全综合征"},"tr":{"name":"Endosteal skleroz-serebellar hipoplazi sendromu"}},"xrefs":[{"source":"OMIM","code":"614381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0013722","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280644","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1195","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":88637,"name":"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}