MCID: 20P001
MIFTS: 12

20p12.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 48 54
Monosomy 20p12.3 48 54
 
Del(20)(p12.3) 48 54

Characteristics:

Orphanet epidemiological data:

54
20p12.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA261295
ICD10 via Orphanet31 Q93.5

Summaries for 20p12.3 Microdeletion Syndrome

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MalaCards based summary: 20p12.3 Microdeletion Syndrome, is also known as monosomy 20p12.3, and has symptoms including Array, Array and Array. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (Bone Morphogenetic Protein 2).

Related Diseases for 20p12.3 Microdeletion Syndrome

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Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

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Human phenotypes related to 20p12.3 Microdeletion Syndrome:

 54 64 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth64 54 Frequent (79-30%) HP:0000160
2 macrocephaly64 54 Frequent (79-30%) HP:0000256
3 malar flattening64 54 Frequent (79-30%) HP:0000272
4 epicanthus64 54 Frequent (79-30%) HP:0000286
5 full cheeks64 54 Occasional (29-5%) HP:0000293
6 hypertelorism64 54 Very frequent (99-80%) HP:0000316
7 hypoplasia of the maxilla64 54 Frequent (79-30%) HP:0000327
8 long philtrum64 54 Occasional (29-5%) HP:0000343
9 thickened helices64 54 Occasional (29-5%) HP:0000391
10 wide nasal bridge64 54 Occasional (29-5%) HP:0000431
11 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
12 pectus carinatum64 54 Occasional (29-5%) HP:0000768
13 seizures64 54 Occasional (29-5%) HP:0001250
14 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
15 global developmental delay64 54 Very frequent (99-80%) HP:0001263
16 atria septal defect54 Occasional (29-5%)
17 wolff-parkinson-white syndrome64 54 Frequent (79-30%) HP:0001716
18 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
19 short stature64 54 Frequent (79-30%) HP:0004322
20 depressed nasal bridge64 54 Occasional (29-5%) HP:0005280
21 microtia64 54 Occasional (29-5%) HP:0008551
22 broad hallux phalanx64 54 Occasional (29-5%) HP:0010059
23 broad thumb64 54 Occasional (29-5%) HP:0011304
24 atrial septal defect64 HP:0001631

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 20p12.3 Microdeletion Syndrome

Genetic Tests for 20p12.3 Microdeletion Syndrome

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Anatomical Context for 20p12.3 Microdeletion Syndrome

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Publications for 20p12.3 Microdeletion Syndrome

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Variations for 20p12.3 Microdeletion Syndrome

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Expression for genes affiliated with 20p12.3 Microdeletion Syndrome

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Search GEO for disease gene expression data for 20p12.3 Microdeletion Syndrome.

Pathways for genes affiliated with 20p12.3 Microdeletion Syndrome

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GO Terms for genes affiliated with 20p12.3 Microdeletion Syndrome

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Sources for 20p12.3 Microdeletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet