MCID: XLN133
MIFTS: 14

X-Linked Intellectual Disability, Shashi Type

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Shashi Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Shashi Type:

Name: X-Linked Intellectual Disability, Shashi Type 59
Syndromic X-Linked Intellectual Disability Type 11 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, shashi type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: elderly;

Classifications:



Summaries for X-Linked Intellectual Disability, Shashi Type

MalaCards based summary : X-Linked Intellectual Disability, Shashi Type, also known as syndromic x-linked intellectual disability type 11, is related to syndromic x-linked intellectual disability shashi type. An important gene associated with X-Linked Intellectual Disability, Shashi Type is RBMX (RNA Binding Motif Protein X-Linked). Related phenotypes are obesity and seizures

Related Diseases for X-Linked Intellectual Disability, Shashi Type

Diseases related to X-Linked Intellectual Disability, Shashi Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability shashi type 12.4

Symptoms & Phenotypes for X-Linked Intellectual Disability, Shashi Type

Human phenotypes related to X-Linked Intellectual Disability, Shashi Type:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
5 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
6 macroorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000053
7 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
8 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
9 palpebral edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100540
10 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
11 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
12 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581

Drugs & Therapeutics for X-Linked Intellectual Disability, Shashi Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Shashi Type

Genetic Tests for X-Linked Intellectual Disability, Shashi Type

Anatomical Context for X-Linked Intellectual Disability, Shashi Type

Publications for X-Linked Intellectual Disability, Shashi Type

Variations for X-Linked Intellectual Disability, Shashi Type

ClinVar genetic disease variations for X-Linked Intellectual Disability, Shashi Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBMX RBMX, 23-BP DEL, EX9 deletion Pathogenic
2 RBMX NM_001164803.1(RBMX): c.217-1078T> C single nucleotide variant Likely pathogenic rs181515589 GRCh37 Chromosome X, 135958822: 135958822
3 RBMX NM_001164803.1(RBMX): c.217-1078T> C single nucleotide variant Likely pathogenic rs181515589 GRCh38 Chromosome X, 136876663: 136876663

Expression for X-Linked Intellectual Disability, Shashi Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Shashi Type.

Pathways for X-Linked Intellectual Disability, Shashi Type

GO Terms for X-Linked Intellectual Disability, Shashi Type

Sources for X-Linked Intellectual Disability, Shashi Type

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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