NEDISHM
MCID: NRD066
MIFTS: 11

Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements (NEDISHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 58 6
Nedishm 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 58 618425

Summaries for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

OMIM : 58 Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019). (618425)

MalaCards based summary : Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements, is also known as nedishm. An important gene associated with Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements is ZNF142 (Zinc Finger Protein 142). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
tremor
chorea
global developmental delay
dystonia
more
Head And Neck Neck:
torticollis

Head And Neck Head:
dolichocephaly

Head And Neck Face:
facial dyskinesia

Clinical features from OMIM:

618425

Drugs & Therapeutics for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Anatomical Context for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

42
Brain

Publications for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Variations for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF142 NM_001105537.2(ZNF142): c.1292del (p.Cys431Leufs) deletion Pathogenic GRCh37 Chromosome 2, 219511053: 219511053
2 ZNF142 NM_001105537.2(ZNF142): c.1292del (p.Cys431Leufs) deletion Pathogenic GRCh38 Chromosome 2, 218646330: 218646330
3 ZNF142 NM_001105537.2(ZNF142): c.817_818del (p.Lys273Glufs) deletion Pathogenic GRCh38 Chromosome 2, 218649090: 218649091
4 ZNF142 NM_001105537.2(ZNF142): c.817_818del (p.Lys273Glufs) deletion Pathogenic GRCh37 Chromosome 2, 219513813: 219513814
5 ZNF142 NM_001105537.3(ZNF142): c.4498C> T (p.Arg1500Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 218640760: 218640760
6 ZNF142 NM_001105537.3(ZNF142): c.4498C> T (p.Arg1500Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 219505483: 219505483
7 ZNF142 NM_001105537.3(ZNF142): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 219508064: 219508064
8 ZNF142 NM_001105537.3(ZNF142): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 218643341: 218643341
9 ZNF142 NM_001105537.3: c.4183delC deletion no interpretation for the single variant
10 ZNF142 NM_001105537.3(ZNF142): c.3698G> T (p.Cys1233Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 218642818: 218642818
11 ZNF142 NM_001105537.3(ZNF142): c.3698G> T (p.Cys1233Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 219507541: 219507541
12 ZNF142 NM_001105537.3(ZNF142): c.4185G> A (p.Leu1395=) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 2, 218642331: 218642331
13 ZNF142 NM_001105537.3(ZNF142): c.4185G> A (p.Leu1395=) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 2, 219507054: 219507054

Expression for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

GO Terms for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Sources for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

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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