NEDCHS
MCID: NRD078
MIFTS: 15

Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity (NEDCHS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity:

Name: Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity 56 73 6
Nedchs 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
three sibs have been reported (last curated september 2019)


Classifications:



External Ids:

OMIM 56 618572
MeSH 43 D065886
MedGen 41 CN262315

Summaries for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia.

MalaCards based summary : Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity, is also known as nedchs. An important gene associated with Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity is INTS8 (Integrator Complex Subunit 8). Affiliated tissues include brain.

More information from OMIM: 618572

Related Diseases for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
optic atrophy

Growth Height:
short stature

Skeletal Feet:
overlapping toes
irregularly implanted toes

Neurologic Central Nervous System:
seizures
global developmental delay
inability to walk
cerebellar hypoplasia
spastic paraplegia
more
Head And Neck Face:
prominent glabella
dysmorphic facial features

Head And Neck Head:
microcephaly, borderline (-2 to -3 sd)

Clinical features from OMIM:

618572

Drugs & Therapeutics for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity

Genetic Tests for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Anatomical Context for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity:

40
Brain

Publications for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Articles related to Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity:

# Title Authors PMID Year
1
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. 6
28763441 2017
2
Human mutations in integrator complex subunits link transcriptome integrity to brain development. 56
28542170 2017

Variations for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INTS8 NM_017864.4(INTS8):c.893A>G (p.Asp298Gly)SNV Pathogenic 689526 8:95850722-95850722 8:94838494-94838494
2 INTS8 NM_017864.4(INTS8):c.2917_2925del (p.Glu973_Leu975del)deletion Pathogenic 689527 8:95892390-95892398 8:94880162-94880170

Expression for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity.

Pathways for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

GO Terms for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

Sources for Neurodevelopmental Disorder with Cerebellar Hypoplasia and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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