16p11.2 microdeletion syndrome
GPTKB entity
Statements (133)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
obesity intellectual disability seizures developmental delay macrocephaly speech delay psychiatric disorders |
| gptkbp:causedBy |
microdeletion of chromosome 16p11.2
|
| gptkbp:containsGene |
gptkb:MAPK3
gptkb:MVP gptkb:SPN gptkb:HIRA gptkb:C16orf75 gptkb:MAZ gptkb:ALDOA gptkb:DOC2A gptkb:KCTD13 gptkb:SEZ6L2 gptkb:SH2B1 gptkb:TAOK2 gptkb:TBX6 C16orf1 C16orf10 C16orf11 C16orf12 C16orf13 C16orf14 C16orf15 C16orf16 C16orf17 C16orf18 C16orf19 C16orf2 C16orf20 C16orf21 C16orf22 C16orf23 C16orf24 C16orf25 C16orf26 C16orf27 C16orf28 C16orf29 C16orf3 C16orf30 C16orf31 C16orf32 C16orf33 C16orf34 C16orf35 C16orf36 C16orf37 C16orf38 C16orf39 C16orf4 C16orf40 C16orf41 C16orf42 C16orf43 C16orf44 C16orf45 C16orf46 C16orf47 C16orf48 C16orf49 C16orf5 C16orf50 C16orf51 C16orf52 C16orf53 C16orf54 C16orf55 C16orf56 C16orf57 C16orf58 C16orf59 C16orf6 C16orf60 C16orf61 C16orf62 C16orf63 C16orf64 C16orf65 C16orf66 C16orf67 C16orf68 C16orf69 C16orf7 C16orf70 C16orf71 C16orf72 C16orf73 C16orf74 C16orf76 C16orf77 C16orf78 C16orf79 C16orf8 C16orf80 C16orf81 C16orf82 C16orf83 C16orf84 C16orf85 C16orf86 C16orf87 C16orf88 C16orf89 C16orf9 C16orf90 C16orf91 C16orf92 CDIPT CORO1A FAM57B KIF22 PPP4C PRRT2 QPRT YPEL3 |
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
16p11.2 microdeletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:location |
gptkb:chromosome_16
16p11.2 region |
| gptkbp:OMIM |
611913
|
| gptkbp:bfsParent |
gptkb:16p11.2_deletion_syndrome
gptkb:KCTD13 |
| gptkbp:bfsLayer |
7
|