MCID: XLN145
MIFTS: 12

X-Linked Intellectual Disability, Pai Type

Categories: Fetal diseases, Neuronal diseases, Rare diseases

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

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

Name: X-Linked Intellectual Disability, Pai Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, pai type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual Disability, Pai Type

MalaCards based summary : X-Linked Intellectual Disability, Pai Type Affiliated tissues include testis, and related phenotypes are seizures and global developmental delay

Related Diseases for X-Linked Intellectual Disability, Pai Type

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

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
7 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
8 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
9 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
10 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
11 spastic tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002510
12 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
13 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
14 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
15 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
16 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
17 hydrocele testis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000034
18 hypertonia 58 Occasional (29-5%)

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

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

Genetic Tests for X-Linked Intellectual Disability, Pai Type

Anatomical Context for X-Linked Intellectual Disability, Pai Type

MalaCards organs/tissues related to X-Linked Intellectual Disability, Pai Type:

40
Testis

Publications for X-Linked Intellectual Disability, Pai Type

Variations for X-Linked Intellectual Disability, Pai Type

Expression for X-Linked Intellectual Disability, Pai Type

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

Pathways for X-Linked Intellectual Disability, Pai Type

GO Terms for X-Linked Intellectual Disability, Pai Type

Sources for X-Linked Intellectual Disability, Pai 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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