DEDSM
MCID: DVL019
MIFTS: 16

Developmental Delay and Seizures with or Without Movement Abnormalities (DEDSM)

Categories: Genetic diseases, Neuronal 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 29 6
Dedsm 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
developmental delay and seizures with or without movement abnormalities:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



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). Related phenotypes are intellectual disability and ataxia

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
Neurologic Central Nervous System:
intellectual disability
ataxia
tremor
global developmental delay
dystonia
more
Growth Height:
short stature (in some patients)

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617836

Human phenotypes related to Developmental Delay and Seizures with or Without Movement Abnormalities:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 very rare (1%) HP:0001251
3 tremor 32 very rare (1%) HP:0001337
4 eeg abnormality 32 HP:0002353
5 global developmental delay 32 very rare (1%) HP:0001263
6 delayed speech and language development 32 HP:0000750
7 generalized myoclonic seizures 32 very rare (1%) HP:0002123
8 dystonia 32 HP:0001332
9 generalized tonic-clonic seizures 32 very rare (1%) HP:0002069
10 rigidity 32 HP:0002063
11 bradykinesia 32 HP:0002067
12 generalized hypotonia 32 very rare (1%) HP:0001290
13 epileptic encephalopathy 32 very rare (1%) HP:0200134
14 arnold-chiari type i malformation 32 very rare (1%) HP:0007099
15 myoclonic absences 32 very rare (1%) HP:0011150

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...

Genetic tests related to Developmental Delay and Seizures with or Without Movement Abnormalities:

# Genetic test Affiliating Genes
1 Developmental Delay and Seizures with or Without Movement Abnormalities 29 DHDDS

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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