MCID: SYN096
MIFTS: 5

Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

MalaCards integrated aliases for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication:

Name: Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 58
Syndactyly-Nystagmus Syndrome Due to Trisomy 2q31.1 58
Syndactyly-Nystagmus Syndrome Due to Dup(2)(q31.1) 58

Characteristics:

Orphanet epidemiological data:

58
syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q92.3
Orphanet 58 ORPHA294026

Summaries for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

MalaCards based summary : Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication, is also known as syndactyly-nystagmus syndrome due to trisomy 2q31.1.

Related Diseases for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Symptoms & Phenotypes for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Drugs & Therapeutics for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Search Clinical Trials , NIH Clinical Center for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Genetic Tests for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Anatomical Context for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Publications for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Variations for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Expression for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Search GEO for disease gene expression data for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication.

Pathways for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

GO Terms for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

Sources for Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication

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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