MCID: 16P009
MIFTS: 5

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

Name: 16p12.2 Microdeletion 24 25
16p12.1 Microdeletion 24 25
Chromosome 16p12.1 Deletion Syndrome, 520-Kb 25

Characteristics:

GeneReviews:

24
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, 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....