MCID: 16P009
MIFTS: 5

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

Name: 16p12.2 Microdeletion 23 24
16p12.1 Microdeletion 23 24
Chromosome 16p12.1 Deletion Syndrome, 520-Kb 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance for 16p12.2 microdeletions is incomplete...

Summaries for 16p12.2 Microdeletion

Genetics Home Reference : 24 16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.

MalaCards based summary : 16p12.2 Microdeletion, also known as 16p12.1 microdeletion, is related to chromosome 16p12.1 deletion syndrome, 520-kb. Affiliated tissues include heart.

GeneReviews: NBK274565

Related Diseases for 16p12.2 Microdeletion

Diseases related to 16p12.2 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 16p12.1 deletion syndrome, 520-kb 12.4

Symptoms & Phenotypes for 16p12.2 Microdeletion

Drugs & Therapeutics for 16p12.2 Microdeletion

Search Clinical Trials , NIH Clinical Center for 16p12.2 Microdeletion

Genetic Tests for 16p12.2 Microdeletion

Anatomical Context for 16p12.2 Microdeletion

MalaCards organs/tissues related to 16p12.2 Microdeletion:

38
Heart

Publications for 16p12.2 Microdeletion

Articles related to 16p12.2 Microdeletion:

# Title Authors Year
1
16p12.2 Microdeletion ( 25719193 )
1993

Variations for 16p12.2 Microdeletion

Expression for 16p12.2 Microdeletion

Search GEO for disease gene expression data for 16p12.2 Microdeletion.

Pathways for 16p12.2 Microdeletion

GO Terms for 16p12.2 Microdeletion

Sources for 16p12.2 Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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