MCID: 12Q001
MIFTS: 6

12q15q21.1 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 12q15q21.1 Microdeletion Syndrome

MalaCards integrated aliases for 12q15q21.1 Microdeletion Syndrome:

Name: 12q15q21.1 Microdeletion Syndrome 58
Del(12)(q15)(q21.1) 58
Deletion 12q15q21.1 58
Monosomy 12q15q21.1 58

Characteristics:

Orphanet epidemiological data:

58
12q15q21.1 microdeletion syndrome
Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA289513

Summaries for 12q15q21.1 Microdeletion Syndrome

MalaCards based summary : 12q15q21.1 Microdeletion Syndrome, is also known as del(12)(q15)(q21.1). An important gene associated with 12q15q21.1 Microdeletion Syndrome is CNOT2 (CCR4-NOT Transcription Complex Subunit 2).

Related Diseases for 12q15q21.1 Microdeletion Syndrome

Symptoms & Phenotypes for 12q15q21.1 Microdeletion Syndrome

Drugs & Therapeutics for 12q15q21.1 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 12q15q21.1 Microdeletion Syndrome

Genetic Tests for 12q15q21.1 Microdeletion Syndrome

Anatomical Context for 12q15q21.1 Microdeletion Syndrome

Publications for 12q15q21.1 Microdeletion Syndrome

Variations for 12q15q21.1 Microdeletion Syndrome

Expression for 12q15q21.1 Microdeletion Syndrome

Search GEO for disease gene expression data for 12q15q21.1 Microdeletion Syndrome.

Pathways for 12q15q21.1 Microdeletion Syndrome

GO Terms for 12q15q21.1 Microdeletion Syndrome

Sources for 12q15q21.1 Microdeletion Syndrome

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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