MCID: XLN147
MIFTS: 10

X-Linked Intellectual Disability, Stoll Type

Categories: Fetal diseases, Neuronal diseases, Rare diseases

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

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

Name: X-Linked Intellectual Disability, Stoll Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, stoll type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA85326

Summaries for X-Linked Intellectual Disability, Stoll Type

MalaCards based summary : X-Linked Intellectual Disability, Stoll Type Related phenotypes are malar flattening and hypertelorism

Related Diseases for X-Linked Intellectual Disability, Stoll Type

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

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

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
7 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
8 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
9 large forehead 58 31 frequent (33%) Frequent (79-30%) HP:0002003
10 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
11 hypoplastic nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005281
12 anteverted nares 58 Frequent (79-30%)

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

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

Genetic Tests for X-Linked Intellectual Disability, Stoll Type

Anatomical Context for X-Linked Intellectual Disability, Stoll Type

Publications for X-Linked Intellectual Disability, Stoll Type

Variations for X-Linked Intellectual Disability, Stoll Type

Expression for X-Linked Intellectual Disability, Stoll Type

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

Pathways for X-Linked Intellectual Disability, Stoll Type

GO Terms for X-Linked Intellectual Disability, Stoll Type

Sources for X-Linked Intellectual Disability, Stoll Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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