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 58
Trisomy 14q11.2 58
Dup(14)(q11.2) 58

Characteristics:

Orphanet epidemiological data:

58
14q11.2 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q92.3
Orphanet 58 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

Articles related to 14q11.2 Microduplication Syndrome:

# Title Authors PMID Year
1
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. 61
31823155 2020

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
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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