Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:nervous_system
musculoskeletal system |
| gptkbp:causedBy |
mutation in ARID1A gene
mutation in ARID1B gene mutation in SMARCA4 gene mutation in SMARCB1 gene mutation in SMARCE1 gene |
| gptkbp:complication |
congenital heart defects
vision problems hearing loss seizures feeding difficulties recurrent respiratory infections |
| gptkbp:firstDescribed |
1970
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Coffin-Siris syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
Evelyn Siris
Gracie Coffin |
| gptkbp:OMIM |
135900
|
| gptkbp:signature |
gptkb:hypertrichosis
short stature microcephaly wide mouth delayed bone age joint laxity long eyelashes thick lips congenital diaphragmatic hernia thick eyebrows low hairline broad nasal bridge |
| gptkbp:symptom |
hypotonia
intellectual disability developmental delay coarse facial features hypoplasia of the fifth fingernails or toenails sparse scalp hair |
| gptkbp:synonym |
gptkb:CSS
fifth digit syndrome |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:ARID1B
gptkb:SMARCA4 gptkb:SMARCC1 gptkb:SWI/SNF_chromatin_remodeling_complex |
| gptkbp:bfsLayer |
6
|