NEDSBAS
MCID: NRD049
MIFTS: 16

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 57 75 6
Nedsbas 57 75
Elhattab-Alkuraya Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder


HPO:

32
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures:
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 57 617977
MedGen 42 CN244929
MeSH 44 D065886

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

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 absent speech 32 HP:0001344
2 inability to walk 32 HP:0002540
3 ventriculomegaly 32 HP:0002119
4 intellectual disability, profound 32 HP:0002187
5 spastic paraplegia 32 HP:0001258
6 hypoplasia of the corpus callosum 32 HP:0002079
7 cerebral hypoplasia 32 HP:0006872

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:

41
Brain, Cortex

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

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 GRCh37 Chromosome 17, 80575179: 80575179
4 WDR45B NM_019613.3(WDR45B): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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