MCID: 14Q003
MIFTS: 6

14q11.2 Microduplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q11.2 Microduplication Syndrome

MalaCards integrated aliases for 14q11.2 Microduplication Syndrome:

Name: 14q11.2 Microduplication Syndrome 60
Trisomy 14q11.2 60
Dup(14)(q11.2) 60

Characteristics:

Orphanet epidemiological data:

60
14q11.2 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 35 Q92.3
Orphanet 60 ORPHA261229

Summaries for 14q11.2 Microduplication Syndrome

MalaCards based summary : 14q11.2 Microduplication Syndrome, is also known as trisomy 14q11.2. An important gene associated with 14q11.2 Microduplication Syndrome is FOXG1 (Forkhead Box G1).

Related Diseases for 14q11.2 Microduplication Syndrome

Symptoms & Phenotypes for 14q11.2 Microduplication Syndrome

Drugs & Therapeutics for 14q11.2 Microduplication Syndrome

Search Clinical Trials , NIH Clinical Center for 14q11.2 Microduplication Syndrome

Genetic Tests for 14q11.2 Microduplication Syndrome

Anatomical Context for 14q11.2 Microduplication Syndrome

Publications for 14q11.2 Microduplication Syndrome

Variations for 14q11.2 Microduplication Syndrome

Expression for 14q11.2 Microduplication Syndrome

Search GEO for disease gene expression data for 14q11.2 Microduplication Syndrome.

Pathways for 14q11.2 Microduplication Syndrome

GO Terms for 14q11.2 Microduplication Syndrome

Sources for 14q11.2 Microduplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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