NEDALVS
MCID: NRD084
MIFTS: 9

Neurodevelopmental Disorder with Absent Language and Variable Seizures (NEDALVS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Absent Language and Variable...

MalaCards integrated aliases for Neurodevelopmental Disorder with Absent Language and Variable Seizures:

Name: Neurodevelopmental Disorder with Absent Language and Variable Seizures 56 6
Ito-Raymond Syndrome 56
Nedalvs 56

Classifications:



External Ids:

OMIM 56 618707

Summaries for Neurodevelopmental Disorder with Absent Language and Variable...

MalaCards based summary : Neurodevelopmental Disorder with Absent Language and Variable Seizures, is also known as ito-raymond syndrome. An important gene associated with Neurodevelopmental Disorder with Absent Language and Variable Seizures is WASF1 (WASP Family Member 1).

More information from OMIM: 618707

Related Diseases for Neurodevelopmental Disorder with Absent Language and Variable...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Absent Language and Variable...

Clinical features from OMIM:

618707

Drugs & Therapeutics for Neurodevelopmental Disorder with Absent Language and Variable...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Absent Language and Variable Seizures

Genetic Tests for Neurodevelopmental Disorder with Absent Language and Variable...

Anatomical Context for Neurodevelopmental Disorder with Absent Language and Variable...

Publications for Neurodevelopmental Disorder with Absent Language and Variable...

Articles related to Neurodevelopmental Disorder with Absent Language and Variable Seizures:

# Title Authors PMID Year
1
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 56 6
29961568 2018

Variations for Neurodevelopmental Disorder with Absent Language and Variable...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Absent Language and Variable Seizures:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WASF1 NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)SNV Pathogenic 561981 rs1562159088 6:110421847-110421847 6:110100644-110100644
2 WASF1 NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)SNV Pathogenic 561980 rs1562159562 6:110422797-110422797 6:110101594-110101594
3 WASF1 NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs)indel Pathogenic 561982 rs1562159599 6:110422831-110422831 6:110101628-110101628

Expression for Neurodevelopmental Disorder with Absent Language and Variable...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Absent Language and Variable Seizures.

Pathways for Neurodevelopmental Disorder with Absent Language and Variable...

GO Terms for Neurodevelopmental Disorder with Absent Language and Variable...

Sources for Neurodevelopmental Disorder with Absent Language and Variable...

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
Content
Loading form....