DEDSM
MCID: DVL019
MIFTS: 20

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

Categories: Genetic diseases, Mental 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 12 72 29 6
Dedsm 57 72
Developmental Delay and Seizures, with/without Movement Abnormalities 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
developmental delay and seizures with or without movement abnormalities:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



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

UniProtKB/Swiss-Prot : 72 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 ataxia and tremor

Disease Ontology : 12 A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has material basis in heterozygous mutation in the DHDDS gene on chromosome 1p36.

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) (Updated 05-Apr-2021)

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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 tremor 31 very rare (1%) HP:0001337
3 global developmental delay 31 very rare (1%) HP:0001263
4 short stature 31 very rare (1%) HP:0004322
5 generalized hypotonia 31 very rare (1%) HP:0001290
6 epileptic encephalopathy 31 very rare (1%) HP:0200134
7 arnold-chiari type i malformation 31 very rare (1%) HP:0007099
8 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
9 generalized myoclonic seizure 31 very rare (1%) HP:0002123
10 myoclonic absence seizure 31 very rare (1%) HP:0011150
11 intellectual disability 31 HP:0001249
12 eeg abnormality 31 HP:0002353
13 delayed speech and language development 31 HP:0000750
14 dystonia 31 HP:0001332
15 rigidity 31 HP:0002063
16 bradykinesia 31 HP:0002067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
tremor
global developmental delay
involuntary movements
more
Growth Height:
short stature (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

617836 (Updated 05-Apr-2021)

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...

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

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 57 6
29100083 2017

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 Name Type Significance ClinVarId dbSNP ID Position
1 DHDDS NM_205861.3(DHDDS):c.113G>A (p.Arg38His) SNV Pathogenic 807406 rs1570332505 GRCh37: 1:26764708-26764708
GRCh38: 1:26438217-26438217
2 DHDDS NM_205861.3(DHDDS):c.110G>A (p.Arg37His) SNV Pathogenic 451635 rs1553121073 GRCh37: 1:26764705-26764705
GRCh38: 1:26438214-26438214
3 DHDDS NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) SNV Pathogenic 488193 rs1553122926 GRCh37: 1:26784371-26784371
GRCh38: 1:26457880-26457880
4 DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 GRCh37: 1:26764719-26764719
GRCh38: 1:26438228-26438228
5 DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 GRCh37: 1:26764719-26764719
GRCh38: 1:26438228-26438228
6 DHDDS NM_205861.3(DHDDS):c.711T>G (p.Phe237Leu) SNV Uncertain significance 1028353 GRCh37: 1:26786581-26786581
GRCh38: 1:26460090-26460090

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....