NEDEGE
MCID: NRD116
MIFTS: 14

Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy (NEDEGE)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Early-Onset...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy:

Name: Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy 57 6
Nedege 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability
de novo mutation
onset in infancy or early childhood

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 619157

Summaries for Neurodevelopmental Disorder with or Without Early-Onset...

OMIM® : 57 Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018). (619157) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy, is also known as nedege. An important gene associated with Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy is NBEA (Neurobeachin).

Related Diseases for Neurodevelopmental Disorder with or Without Early-Onset...

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Early-Onset...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
unsteady gait
myoclonic seizures
hypotonia
wide-based gait
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
adhd

Skin Nails Hair Skin:
dry skin
eczema

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

619157 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Early-Onset...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy

Genetic Tests for Neurodevelopmental Disorder with or Without Early-Onset...

Anatomical Context for Neurodevelopmental Disorder with or Without Early-Onset...

Publications for Neurodevelopmental Disorder with or Without Early-Onset...

Articles related to Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy:

# Title Authors PMID Year
1
NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 57 6
30269351 2018
2
Genomic diagnosis for children with intellectual disability and/or developmental delay. 57
28554332 2017

Variations for Neurodevelopmental Disorder with or Without Early-Onset...

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBEA NM_001385012.1(NBEA):c.1006C>T (p.Arg336Ter) SNV Pathogenic 995843 13:35630180-35630180 13:35056043-35056043
2 NBEA NM_001385012.1(NBEA):c.6829C>T (p.Arg2277Ter) SNV Pathogenic 995844 13:36129146-36129146 13:35555009-35555009
3 NBEA NM_001385012.1(NBEA):c.3994C>T (p.Pro1332Ser) SNV Pathogenic 995845 13:35736019-35736019 13:35161882-35161882
4 NBEA NM_001385012.1(NBEA):c.6313G>T (p.Glu2105Ter) SNV Pathogenic 995846 13:36026237-36026237 13:35452100-35452100
5 NBEA NM_001385012.1(NBEA):c.8464G>A (p.Glu2822Lys) SNV Pathogenic 995847 13:36239323-36239323 13:35665186-35665186

Expression for Neurodevelopmental Disorder with or Without Early-Onset...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy.

Pathways for Neurodevelopmental Disorder with or Without Early-Onset...

GO Terms for Neurodevelopmental Disorder with or Without Early-Onset...

Sources for Neurodevelopmental Disorder with or Without Early-Onset...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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