NEDBAS
MCID: NRD085
MIFTS: 19

Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures (NEDBAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

MalaCards integrated aliases for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures:

Name: Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures 56 73 6
Neurodevelopmental Disorder with Non-Specific Brain Abnormalities and with or Without Seizures 73 17
Nedbas 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation (in some patients)


Classifications:



External Ids:

OMIM 56 618709
MeSH 43 D065886
MedGen 41 CN263062

Summaries for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

OMIM : 56 Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019). (618709)

MalaCards based summary : Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures, also known as neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures, is related to neurodevelopmental disorder with or without variable brain abnormalities. An important gene associated with Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures is DLL1 (Delta Like Canonical Notch Ligand 1). Affiliated tissues include brain and cerebellum.

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures: An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations.

Related Diseases for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Diseases related to Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with or without variable brain abnormalities 12.1

Symptoms & Phenotypes for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
vertebral abnormalities

Skeletal:
joint hypermobility

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit
behavioral abnormalities
stereotypic behaviors

Head And Neck Face:
dysmorphic facial features, variable, nonspecific (in some patients)

Neurologic Central Nervous System:
hydrocephalus
cortical dysplasia
dysplastic corpus callosum
enlarged ventricles
seizures (in some patients)
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
upslanting palpebral fissures

Clinical features from OMIM:

618709

Drugs & Therapeutics for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures

Genetic Tests for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Anatomical Context for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures:

40
Brain, Cerebellum

Publications for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Articles related to Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures:

# Title Authors PMID Year
1
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 56 6
31353024 2019

Variations for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLL1 NM_005618.4(DLL1):c.1492G>T (p.Glu498Ter)SNV Pathogenic 800560 6:170592875-170592875 6:170283787-170283787
2 DLL1 NM_005618.4(DLL1):c.231C>A (p.Cys77Ter)SNV Pathogenic 800561 6:170598720-170598720 6:170289632-170289632
3 DLL1 NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)SNV Pathogenic 800562 6:170592842-170592842 6:170283754-170283754
4 DLL1 NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs)deletion Pathogenic 800563 6:170592353-170592354 6:170283265-170283266
5 DLL1 NM_005618.4(DLL1):c.54+1G>ASNV Pathogenic 800564 6:170599173-170599173 6:170290085-170290085

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures:

73
# Symbol AA change Variation ID SNP ID
1 DLL1 p.Cys179Phe VAR_083468

Expression for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures.

Pathways for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

GO Terms for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

Sources for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

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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