Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
children
both sexes |
| gptkbp:alsoKnownAs |
monosomy 1p36
|
| gptkbp:category |
chromosomal deletion syndrome
|
| gptkbp:causedBy |
deletion of genetic material on the short arm of chromosome 1
|
| gptkbp:chromosomeAffected |
chromosome 1
|
| gptkbp:containsGene |
multiple genes in 1p36 region
|
| gptkbp:diagnosedBy |
chromosomal microarray
FISH analysis |
| gptkbp:firstDescribed |
1997
|
| gptkbp:frequency |
1 in 5,000 to 1 in 10,000 births
|
| gptkbp:hasOrphanetID |
ORPHA:2612
|
| https://www.w3.org/2000/01/rdf-schema#label |
1p36 deletion syndrome
|
| gptkbp:ICD-10_code |
Q93.89
|
| gptkbp:inheritance |
rarely inherited
usually de novo |
| gptkbp:location |
gptkb:1p36_region
|
| gptkbp:OMIM |
607872
|
| gptkbp:symptom |
congenital heart defects
hypotonia intellectual disability vision problems hearing loss seizures developmental delay distinctive facial features feeding difficulties behavioral problems |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:1p36_region
gptkb:chromosome_1p36.22 gptkb:chromosome_1p36.2 |
| gptkbp:bfsLayer |
7
|