| dbo:abstract |
Das Jancar-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Defekten der unteren Gliedmaßen mit geistiger Retardierung und Spastik. Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung im Jahr 1967 durch J. Jancar. (de) Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature. (en) |
| dbo:alias |
(en) Jancar syndrome (en) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID |
71282453 (xsd:integer) |
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4197 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1124700342 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Genetic_disorder dbr:Clinodactyly dbr:England dbr:Genetic_mutation dbr:Medical_genetics dbr:Europe dbr:Hereditary_spastic_paraplegia dbr:Israel dbc:Syndromes dbr:Syndactyly dbr:Ectrodactyly dbr:Middle_East dbr:Intellectual_disabilities dbr:Spastic_paraplegia |
| dbp:causes |
dbr:Genetic_mutation |
| dbp:deaths |
- (en) |
| dbp:duration |
Lifelong (en) |
| dbp:frequency |
3 (xsd:integer) |
| dbp:name |
Intellectual disabilitt-spasticity-ectrodactyly syndrome (en) |
| dbp:onset |
Birth (en) |
| dbp:prevention |
none (en) |
| dbp:risks |
Being part of a consanguineous family, being of Middle Eastern descent. (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:symptoms |
intellectual disabilities, spastic paraplegia, and distal limb defects such as ectrodactyly (en) |
| dbp:synonyms |
Jancar syndrome (en) |
| dbp:wikiPageUsesTemplate |
dbt:Genetic-disorder-stub dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject |
dbc:Syndromes |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Das Jancar-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Defekten der unteren Gliedmaßen mit geistiger Retardierung und Spastik. Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung im Jahr 1967 durch J. Jancar. (de) Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature. (en) |
| rdfs:label |
Jancar-Syndrom (de) Intellectual disability-spasticity-ectrodactyly syndrome (en) |
| owl:sameAs |
wikidata:Intellectual disability-spasticity-ectrodactyly syndrome dbpedia-de:Intellectual disability-spasticity-ectrodactyly syndrome https://global.dbpedia.org/id/mUZj |
| prov:wasDerivedFrom |
wikipedia-en:Intellectual_disability-spasticity-ectrodactyly_syndrome?oldid=1124700342&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Intellectual_disability-spasticity-ectrodactyly_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:Intellectual_disability-spasticity-ectrodactyly_syndrome |
