MCID: SYN073
MIFTS: 8

Syngap1-Related Intellectual Disability

Categories: Rare diseases, Neuronal diseases, Mental diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Syngap1-Related Intellectual Disability

MalaCards integrated aliases for Syngap1-Related Intellectual Disability:

Name: Syngap1-Related Intellectual Disability 25
Mental Retardation, Autosomal Dominant 5 69
Mrd5 25

Classifications:



Summaries for Syngap1-Related Intellectual Disability

Genetics Home Reference : 25 SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.

MalaCards based summary : Syngap1-Related Intellectual Disability, also known as mental retardation, autosomal dominant 5, is related to syngap1-related non-syndromic intellectual disability, and has symptoms including seizures

Related Diseases for Syngap1-Related Intellectual Disability

Symptoms & Phenotypes for Syngap1-Related Intellectual Disability

UMLS symptoms related to Syngap1-Related Intellectual Disability:


seizures

Drugs & Therapeutics for Syngap1-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Syngap1-Related Intellectual Disability

Genetic Tests for Syngap1-Related Intellectual Disability

Anatomical Context for Syngap1-Related Intellectual Disability

Publications for Syngap1-Related Intellectual Disability

Variations for Syngap1-Related Intellectual Disability

Expression for Syngap1-Related Intellectual Disability

Search GEO for disease gene expression data for Syngap1-Related Intellectual Disability.

Pathways for Syngap1-Related Intellectual Disability

GO Terms for Syngap1-Related Intellectual Disability

Sources for Syngap1-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....