MCID: 16P009
MIFTS: 8

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

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

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. Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.

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

Related Diseases for 16p12.2 Microdeletion

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p12.1 deletion syndrome, 520-kb 12.8
2 16p12.2 recurrent deletion 11.8
3 aortic valve disease 1 10.2
4 hydrocephalus, congenital, 1 10.2
5 hydrocephalus 10.2
6 spinal stenosis 10.2
7 hypoplastic left heart syndrome 10.2
8 branchiootic syndrome 1 10.2
9 deafness, autosomal recessive 22 10.2
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
11 dyslexia 10.2

Graphical network of the top 20 diseases related to 16p12.2 Microdeletion:



Diseases related to 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

Anatomical Context for 16p12.2 Microdeletion

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

40
Heart, Kidney

Publications for 16p12.2 Microdeletion

Articles related to 16p12.2 Microdeletion:

# Title Authors PMID Year
1
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22. 61
31204719 2019
2
Clinical utility gene card for: 16p12.2 microdeletion. 61
27848943 2017

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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