| dbo:abstract |
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. (en) |
| dbo:alias |
(en) Autosomal dominant intellectual disability 40 (en) |
| dbo:wikiPageID |
71133576 (xsd:integer) |
| dbo:wikiPageLength |
7539 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1123584992 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Prognathism dbr:De_novo_mutation dbr:Dysmorphic_feature dbr:Pediatry dbc:Rare_genetic_syndromes dbr:Genetic_disorder dbr:Nonsense_mutation dbr:Epicanthic_fold dbr:Genetic_mutation dbr:Stereotypy dbr:Strabismus dbr:Medical_genetics dbr:Autism dbr:Dolichocephaly dbc:Developmental_disabilities dbc:Genetic_diseases_and_disorders dbc:Neurodevelopmental_disorders dbc:Syndromes_affecting_the_gastrointestinal_tract dbr:Chromosome_13 dbr:Ataxia dbr:Hypoalgesia dbr:Hypotonia dbr:Missense_mutation dbr:Dominance_(genetics) dbc:Congenital_disorders_of_eye,_ear,_face_and_neck dbr:Hyperopia dbr:CHAMP1 dbr:Philtrum dbr:Intellectual_disabilities dbr:Palpebral_fissure dbr:Gastroesophageal_reflux dbr:Respiratory_tract_infections dbr:Developmental_delays dbr:Joint_hypermobility dbr:High_palate dbr:Speech_delays dbr:Lip_vermilion |
| dbp:causes |
Genetic mutation in CHAMP1 (en) |
| dbp:deaths |
- (en) |
| dbp:duration |
Lifelong (en) |
| dbp:frequency |
rare, only 36 cases have been described around the world (en) |
| dbp:name |
CHAMP1-associated intellectual disability syndrome (en) |
| dbp:onset |
Birth (en) |
| dbp:prevention |
None (en) |
| dbp:prognosis |
With treatment, prognosis is medium to good, without treatment, prognosis is medium to poor (en) |
| dbp:specialty |
dbr:Pediatry dbr:Medical_genetics |
| dbp:symptoms |
Developmental delays, intellectual disability, and other multi-systemic symptoms (en) |
| dbp:synonyms |
Autosomal dominant intellectual disability 40 (en) |
| dbp:wikiPageUsesTemplate |
dbt:Genetic-disorder-stub dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition dbt:Copy_edit_section |
| dct:subject |
dbc:Rare_genetic_syndromes dbc:Developmental_disabilities dbc:Genetic_diseases_and_disorders dbc:Neurodevelopmental_disorders dbc:Syndromes_affecting_the_gastrointestinal_tract dbc:Congenital_disorders_of_eye,_ear,_face_and_neck |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. (en) |
| rdfs:label |
CHAMP1-associated intellectual disability syndrome (en) |
| owl:sameAs |
wikidata:CHAMP1-associated intellectual disability syndrome https://global.dbpedia.org/id/4fFj1 |
| prov:wasDerivedFrom |
wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome?oldid=1123584992&ns=0 |
| foaf:isPrimaryTopicOf |
wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome |
| is dbo:wikiPageRedirects of |
dbr:Autosomal_dominant_intellectual_disability_40 |
| is dbo:wikiPageWikiLink of |
dbr:Severe_intellectual_disability-progressive_spastic_diplegia_syndrome dbr:Autosomal_dominant_intellectual_disability_40 |
| is foaf:primaryTopic of |
wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome |