MCID: DVL019
MIFTS: 11

Developmental Delay and Seizures with or Without Movement Abnormalities

Categories: Genetic diseases

Aliases & Classifications for Developmental Delay and Seizures with or Without Movement...

MalaCards integrated aliases for Developmental Delay and Seizures with or Without Movement Abnormalities:

Name: Developmental Delay and Seizures with or Without Movement Abnormalities 57 75 6
Dedsm 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
seizure onset in first decade
variable severity
seizures tend to be difficult to control
mutations occur de novo
five unrelated patients have been reported (last curated january 2018)


Classifications:



External Ids:

OMIM 57 617836
MedGen 42 CN769090
MeSH 44 D065886

Summaries for Developmental Delay and Seizures with or Without Movement...

UniProtKB/Swiss-Prot : 75 Developmental delay and seizures with or without movement abnormalities: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor.

MalaCards based summary : Developmental Delay and Seizures with or Without Movement Abnormalities, is also known as dedsm. An important gene associated with Developmental Delay and Seizures with or Without Movement Abnormalities is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit).

OMIM : 57 DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017). (617836)

Related Diseases for Developmental Delay and Seizures with or Without Movement...

Symptoms & Phenotypes for Developmental Delay and Seizures with or Without Movement...

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

Neurologic Central Nervous System:
global developmental delay
seizures, multiple types
myoclonic seizures
eeg abnormalities
intellectual disability
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617836

Drugs & Therapeutics for Developmental Delay and Seizures with or Without Movement...

Search Clinical Trials , NIH Clinical Center for Developmental Delay and Seizures with or Without Movement Abnormalities

Genetic Tests for Developmental Delay and Seizures with or Without Movement...

Anatomical Context for Developmental Delay and Seizures with or Without Movement...

Publications for Developmental Delay and Seizures with or Without Movement...

Variations for Developmental Delay and Seizures with or Without Movement...

ClinVar genetic disease variations for Developmental Delay and Seizures with or Without Movement Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DHDDS NM_024887.3(DHDDS): c.110G> A (p.Arg37His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 26764705: 26764705
2 DHDDS NM_024887.3(DHDDS): c.110G> A (p.Arg37His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 26438214: 26438214
3 DHDDS NM_024887.3(DHDDS): c.632G> A (p.Arg211Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 26457880: 26457880
4 DHDDS NM_024887.3(DHDDS): c.632G> A (p.Arg211Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 26784371: 26784371

Expression for Developmental Delay and Seizures with or Without Movement...

Search GEO for disease gene expression data for Developmental Delay and Seizures with or Without Movement Abnormalities.

Pathways for Developmental Delay and Seizures with or Without Movement...

GO Terms for Developmental Delay and Seizures with or Without Movement...

Sources for Developmental Delay and Seizures with or Without Movement...

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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