MCID: NRD049
MIFTS: 11

Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures

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 6
Nedsbas 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder


Classifications:



External Ids:

OMIM 57 617977

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

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.

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 Head:
microcephaly (in some patients)

Skeletal:
contractures

Muscle Soft Tissue:
axial hypotonia

Head And Neck Eyes:
visual impairment

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
delayed psychomotor development, profound
intellectual disability, profound
seizure, refractory (in most patients)
slowed background activity with multifocal epileptiform activity seen on eeg
inability to walk
more

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:

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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