MCID: 16P009
MIFTS: 6

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

Name: 16p12.2 Microdeletion 23 25
Chromosome 16p12.1 Deletion Syndrome, 520-Kb 25 29
16p12.1 Microdeletion 23 25

Characteristics:

GeneReviews:

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

Summaries for 16p12.2 Microdeletion

Genetics Home Reference : 25 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, is also known as chromosome 16p12.1 deletion syndrome, 520-kb. Affiliated tissues include heart.

GeneReviews: NBK274565

Related Diseases for 16p12.2 Microdeletion

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

Genetic tests related to 16p12.2 Microdeletion:

id Genetic test Affiliating Genes
1 Chromosome 16p12.1 Deletion Syndrome, 520-Kb 29

Anatomical Context for 16p12.2 Microdeletion

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

39
Heart

Publications for 16p12.2 Microdeletion

Articles related to 16p12.2 Microdeletion:

id 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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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59 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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