DEL
MCID: 20P001
MIFTS: 11

20p12.3 Microdeletion Syndrome (DEL) malady

Fetal category

Summaries for 20p12.3 Microdeletion Syndrome

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33MalaCards
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MalaCards: 20p12.3 Microdeletion Syndrome, is also known as chromosome deletion, and has symptoms including hypertelorism, intellectual deficit/mental/psychomotor retardation/learning disability and insterstitial/subtelomeric microdeletion/deletion. An important gene associated with 20p12.3 Microdeletion Syndrome is BMP2 (bone morphogenetic protein 2).

Aliases & Classifications for 20p12.3 Microdeletion Syndrome

Sources:
49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Characteristics (Orphanet epidemiological data):

49
20p12.3 microdeletion syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

20p12.3 microdeletion syndrome 49
chromosome deletion 61
monosomy 20p12.3 49
del 49


External Ids:

ICD10 via Orphanet26 Q93.5

Related Diseases for 20p12.3 Microdeletion Syndrome

Clinical Features for 20p12.3 Microdeletion Syndrome

Sources:
49Orphanet
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Symptoms:

49 (show all 24)
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • epicanthic folds
  • microstomia/little mouth
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • short stature/dwarfism/nanism
  • broad cheeks/cherub-like/cherubin face
  • broad nose/nasal bridge
  • broad nasal root
  • long philtrum
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • helix thickened/sculpted
  • pectus carinatum
  • broad/bifid thumb
  • broad/bifid big toe
  • atrial septal defect/interauricular communication
  • dilated cerebral ventricles without hydrocephaly
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for 20p12.3 Microdeletion Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 20p12.3 Microdeletion Syndrome

Drug clinical trials:

Search ClinicalTrials for 20p12.3 Microdeletion Syndrome

Search NIH Clinical Center for 20p12.3 Microdeletion Syndrome

Search CenterWatch for 20p12.3 Microdeletion Syndrome

Genetic Tests for 20p12.3 Microdeletion Syndrome

Anatomical Context for 20p12.3 Microdeletion Syndrome

Animal Models for 20p12.3 Microdeletion Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for 20p12.3 Microdeletion Syndrome

Genetic Variations for 20p12.3 Microdeletion Syndrome

Expression for genes affiliated with 20p12.3 Microdeletion Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 20p12.3 Microdeletion Syndrome

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

Pathways for genes affiliated with 20p12.3 Microdeletion Syndrome

Compounds for genes affiliated with 20p12.3 Microdeletion Syndrome

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

Products for genes affiliated with 20p12.3 Microdeletion Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 20p12.3 Microdeletion Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet