NEDSBAS
MCID: NRD049
MIFTS: 19

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 72 6
Nedsbas 57 72
Elhattab-Alkuraya Syndrome 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
progressive disorder


HPO:

31
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



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

UniProtKB/Swiss-Prot : 72 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 microcephaly and visual impairment

More information 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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 visual impairment 31 HP:0000505
3 flexion contracture 31 HP:0001371
4 absent speech 31 HP:0001344
5 kyphoscoliosis 31 HP:0002751
6 ventriculomegaly 31 HP:0002119
7 spastic paraplegia 31 HP:0001258
8 hypoplasia of the corpus callosum 31 HP:0002079
9 intellectual disability, profound 31 HP:0002187
10 muscular hypotonia of the trunk 31 HP:0008936
11 inability to walk 31 HP:0002540
12 cerebral hypoplasia 31 HP:0006872

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
visual impairment

Skeletal Spine:
kyphoscoliosis

Skeletal:
contractures

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

Muscle Soft Tissue:
axial hypotonia

Clinical features from OMIM®:

617977 (Updated 20-May-2021)

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:

40
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 PMID Year
1
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. 6 57
28503735 2018
2
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 57
27431290 2017
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57
21937992 2011

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 Name Type Significance ClinVarId dbSNP ID Position
1 WDR45B NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) SNV Pathogenic 191088 rs786205510 GRCh37: 17:80576950-80576950
GRCh38: 17:82619074-82619074
2 WDR45B NM_019613.4(WDR45B):c.799C>T (p.Gln267Ter) SNV Pathogenic 523671 rs1555647262 GRCh37: 17:80575179-80575179
GRCh38: 17:82617303-82617303
3 WDR45B NM_019613.4(WDR45B):c.68-1G>A SNV Pathogenic 1028634 GRCh37: 17:80601900-80601900
GRCh38: 17:82644024-82644024

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
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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