MCID: XLN142
MIFTS: 11

X-Linked Intellectual Disability, Stevenson Type

Categories: Fetal diseases, Neuronal diseases, Rare diseases

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

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

Name: X-Linked Intellectual Disability, Stevenson Type 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual Disability, Stevenson Type

MalaCards based summary : X-Linked Intellectual Disability, Stevenson Type Related phenotypes are global developmental delay and muscular hypotonia

Related Diseases for X-Linked Intellectual Disability, Stevenson Type

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

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

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
6 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
7 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
8 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
9 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
10 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
11 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
12 thickened helices 58 31 hallmark (90%) Very frequent (99-80%) HP:0000391
13 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
14 broad columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0010761
15 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
16 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
17 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
18 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
19 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
20 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
21 long foot 58 31 frequent (33%) Frequent (79-30%) HP:0001833
22 abnormality of the pinna 58 Frequent (79-30%)

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

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

Genetic Tests for X-Linked Intellectual Disability, Stevenson Type

Anatomical Context for X-Linked Intellectual Disability, Stevenson Type

Publications for X-Linked Intellectual Disability, Stevenson Type

Variations for X-Linked Intellectual Disability, Stevenson Type

Expression for X-Linked Intellectual Disability, Stevenson Type

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

Pathways for X-Linked Intellectual Disability, Stevenson Type

GO Terms for X-Linked Intellectual Disability, Stevenson Type

Sources for X-Linked Intellectual Disability, Stevenson 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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