NEDVIBA
MCID: NRD073
MIFTS: 9

Neurodevelopmental Disorder with Visual Defects and Brain Anomalies (NEDVIBA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Visual Defects and Brain...

MalaCards integrated aliases for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

Name: Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 57
Nedviba 57

Classifications:



External Ids:

OMIM 57 618547

Summaries for Neurodevelopmental Disorder with Visual Defects and Brain...

OMIM : 57 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019). (618547)

MalaCards based summary : Neurodevelopmental Disorder with Visual Defects and Brain Anomalies, is also known as nedviba. An important gene associated with Neurodevelopmental Disorder with Visual Defects and Brain Anomalies is HK1 (Hexokinase 1). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder with Visual Defects and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Visual Defects and Brain...

Clinical features from OMIM:

618547

Drugs & Therapeutics for Neurodevelopmental Disorder with Visual Defects and Brain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Visual Defects and Brain...

Anatomical Context for Neurodevelopmental Disorder with Visual Defects and Brain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

41
Brain

Publications for Neurodevelopmental Disorder with Visual Defects and Brain...

Articles related to Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

# Title Authors PMID Year
1
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. 8
30778173 2019

Variations for Neurodevelopmental Disorder with Visual Defects and Brain...

Expression for Neurodevelopmental Disorder with Visual Defects and Brain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Visual Defects and Brain...

GO Terms for Neurodevelopmental Disorder with Visual Defects and Brain...

Sources for Neurodevelopmental Disorder with Visual Defects and Brain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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