MCID: NNS045
MIFTS: 9

Non-Specific Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Specific Syndromic Intellectual Disability

MalaCards integrated aliases for Non-Specific Syndromic Intellectual Disability:

Name: Non-Specific Syndromic Intellectual Disability 60
Complex Neurodevelopmental Disorder 60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Orphanet 60 ORPHA528084

Summaries for Non-Specific Syndromic Intellectual Disability

MalaCards based summary : Non-Specific Syndromic Intellectual Disability, also known as complex neurodevelopmental disorder, is related to yuan-harel-lupski syndrome and spastic paraplegia and psychomotor retardation with or without seizures. An important gene associated with Non-Specific Syndromic Intellectual Disability is ACTL6A (Actin Like 6A).

Related Diseases for Non-Specific Syndromic Intellectual Disability

Diseases related to Non-Specific Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 yuan-harel-lupski syndrome 11.0
2 spastic paraplegia and psychomotor retardation with or without seizures 11.0
3 cerebellar atrophy, developmental delay, and seizures 9.8
4 hypogonadotropic hypogonadism 9.8
5 hypogonadism 9.8

Graphical network of the top 20 diseases related to Non-Specific Syndromic Intellectual Disability:



Diseases related to Non-Specific Syndromic Intellectual Disability

Symptoms & Phenotypes for Non-Specific Syndromic Intellectual Disability

Drugs & Therapeutics for Non-Specific Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Non-Specific Syndromic Intellectual Disability

Genetic Tests for Non-Specific Syndromic Intellectual Disability

Anatomical Context for Non-Specific Syndromic Intellectual Disability

Publications for Non-Specific Syndromic Intellectual Disability

Articles related to Non-Specific Syndromic Intellectual Disability:

# Title Authors Year
1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. ( 29724491 )
2019

Variations for Non-Specific Syndromic Intellectual Disability

Expression for Non-Specific Syndromic Intellectual Disability

Search GEO for disease gene expression data for Non-Specific Syndromic Intellectual Disability.

Pathways for Non-Specific Syndromic Intellectual Disability

GO Terms for Non-Specific Syndromic Intellectual Disability

Sources for Non-Specific Syndromic Intellectual Disability

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
Content
Loading form....