NEDSBAS
MCID: NRD049
MIFTS: 17

Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures (NEDSBAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

Name: Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures 58 76 6
Nedsbas 58 76
Elhattab-Alkuraya Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder


HPO:

33
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures:
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 58 617977
MeSH 45 D065886

Summaries for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures: An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter.

MalaCards based summary : Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures, is also known as nedsbas. An important gene associated with Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures is WDR45B (WD Repeat Domain 45B). Affiliated tissues include brain and cortex, and related phenotypes are absent speech and inability to walk

Description from OMIM: 617977

Related Diseases for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 absent speech 33 HP:0001344
2 inability to walk 33 HP:0002540
3 ventriculomegaly 33 HP:0002119
4 intellectual disability, profound 33 HP:0002187
5 spastic paraplegia 33 HP:0001258
6 hypoplasia of the corpus callosum 33 HP:0002079
7 cerebral hypoplasia 33 HP:0006872

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
visual impairment

Skeletal Spine:
kyphoscoliosis

Skeletal:
contractures

Neurologic Central Nervous System:
absent speech
inability to walk
intellectual disability, profound
spastic paraplegia
cerebral hypoplasia
more
Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
axial hypotonia

Clinical features from OMIM:

617977

Drugs & Therapeutics for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

Genetic Tests for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

Anatomical Context for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

42
Brain, Cortex

Publications for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

# Title Authors Year
1
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. ( 28503735 )
2018
2
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. ( 27431290 )
2017

Variations for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR45B NM_019613.3(WDR45B): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786205510 GRCh37 Chromosome 17, 80576950: 80576950
2 WDR45B NM_019613.3(WDR45B): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786205510 GRCh38 Chromosome 17, 82619074: 82619074
3 WDR45B NM_019613.3(WDR45B): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs1555647262 GRCh37 Chromosome 17, 80575179: 80575179
4 WDR45B NM_019613.3(WDR45B): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs1555647262 GRCh38 Chromosome 17, 82617303: 82617303

Expression for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

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

Pathways for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

GO Terms for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

Sources for Neurodevelopmental Disorder with Spastic Quadriplegia and Brain...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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