MCID: 20P001
MIFTS: 12

20p12.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

Aliases & Descriptions for 20p12.3 Microdeletion Syndrome:

Name: 20p12.3 Microdeletion Syndrome 50 56
Monosomy 20p12.3 50 56
Del(20)(p12.3) 50 56

Characteristics:

Orphanet epidemiological data:

56
20p12.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA261295
ICD10 via Orphanet 34 Q93.5

Summaries for 20p12.3 Microdeletion Syndrome

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

Related Diseases for 20p12.3 Microdeletion Syndrome

Symptoms & Phenotypes for 20p12.3 Microdeletion Syndrome

Human phenotypes related to 20p12.3 Microdeletion Syndrome:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 macrocephaly 56 32 Frequent (79-30%) HP:0000256
3 malar flattening 56 32 Frequent (79-30%) HP:0000272
4 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
5 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 depressed nasal bridge 56 32 Occasional (29-5%) HP:0005280
8 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
9 pectus carinatum 56 32 Occasional (29-5%) HP:0000768
10 microtia 56 32 Occasional (29-5%) HP:0008551
11 short stature 56 32 Frequent (79-30%) HP:0004322
12 broad hallux phalanx 56 32 Occasional (29-5%) HP:0010059
13 broad thumb 56 32 Occasional (29-5%) HP:0011304
14 full cheeks 56 32 Occasional (29-5%) HP:0000293
15 long philtrum 56 32 Occasional (29-5%) HP:0000343
16 epicanthus 56 32 Frequent (79-30%) HP:0000286
17 wolff-parkinson-white syndrome 56 32 Frequent (79-30%) HP:0001716
18 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
19 hypoplasia of the maxilla 56 32 Frequent (79-30%) HP:0000327
20 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
21 narrow mouth 56 32 Frequent (79-30%) HP:0000160
22 thickened helices 56 32 Occasional (29-5%) HP:0000391
23 atria septal defect 56 Occasional (29-5%)
24 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

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

Genetic Tests for 20p12.3 Microdeletion Syndrome

Anatomical Context for 20p12.3 Microdeletion Syndrome

Publications for 20p12.3 Microdeletion Syndrome

Variations for 20p12.3 Microdeletion Syndrome

Expression for 20p12.3 Microdeletion Syndrome

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

Pathways for 20p12.3 Microdeletion Syndrome

GO Terms for 20p12.3 Microdeletion Syndrome

Sources for 20p12.3 Microdeletion Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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