NEDBAS
MCID: NRD085
MIFTS: 22

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 57 72 29 6
Neurodevelopmental Disorder with Non-Specific Brain Abnormalities and with or Without Seizures 72 17
Nedbas 57 72
Neurodevelopmental Disorder with Nonspecific Brain Abnormalities, with/without Seizures 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Nonspecific Brain Abnormalities...

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures, is also known as neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures. 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, and related phenotypes are macrocephaly and ataxia

UniProtKB/Swiss-Prot : 72 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...

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

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

31 (showing 17, show less)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 ataxia 31 very rare (1%) HP:0001251
3 hydrocephalus 31 very rare (1%) HP:0000238
4 global developmental delay 31 very rare (1%) HP:0001263
5 abnormal facial shape 31 very rare (1%) HP:0001999
6 abnormal vertebral morphology 31 very rare (1%) HP:0003468
7 microcephaly 31 very rare (1%) HP:0000252
8 stereotypy 31 very rare (1%) HP:0000733
9 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
10 ventriculomegaly 31 very rare (1%) HP:0002119
11 abnormality of neuronal migration 31 very rare (1%) HP:0002269
12 autistic behavior 31 very rare (1%) HP:0000729
13 abnormal corpus callosum morphology 31 very rare (1%) HP:0001273
14 cortical dysplasia 31 very rare (1%) HP:0002539
15 seizure 31 very rare (1%) HP:0001250
16 hypotonia 31 very rare (1%) HP:0001252
17 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
vertebral abnormalities

Skeletal:
joint hypermobility

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features
attention deficit
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 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures 29 DLL1

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:

(showing 1, show less)
# Title Authors PMID Year
1
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 57 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 (showing 7, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLL1 NM_005618.4(DLL1):c.1492G>T (p.Glu498Ter) SNV Pathogenic 800560 rs371262985 GRCh37: 6:170592875-170592875
GRCh38: 6:170283787-170283787
2 DLL1 NM_005618.4(DLL1):c.231C>A (p.Cys77Ter) SNV Pathogenic 800561 rs1583157635 GRCh37: 6:170598720-170598720
GRCh38: 6:170289632-170289632
3 DLL1 NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) SNV Pathogenic 800562 rs1583152162 GRCh37: 6:170592842-170592842
GRCh38: 6:170283754-170283754
4 DLL1 NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs) Deletion Pathogenic 800563 rs1583151308 GRCh37: 6:170592353-170592354
GRCh38: 6:170283265-170283266
5 DLL1 NM_005618.4(DLL1):c.54+1G>A SNV Pathogenic 800564 rs1583158315 GRCh37: 6:170599173-170599173
GRCh38: 6:170290085-170290085
6 DLL1 NM_005618.4(DLL1):c.152del (p.Pro51fs) Deletion Pathogenic 982392 GRCh37: 6:170598799-170598799
GRCh38: 6:170289711-170289711
7 DLL1 NM_005618.4(DLL1):c.134G>A (p.Cys45Tyr) SNV Uncertain significance 1028921 GRCh37: 6:170598817-170598817
GRCh38: 6:170289729-170289729

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

72 (showing 1, show less)
# 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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