MCID: XLN156
MIFTS: 13

X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

Name: X-Linked Intellectual Disability, Golabi-Ito-Hall Type 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, golabi-ito-hall type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

MalaCards based summary : X-Linked Intellectual Disability, Golabi-Ito-Hall Type An important gene associated with X-Linked Intellectual Disability, Golabi-Ito-Hall Type is PQBP1 (Polyglutamine Binding Protein 1). Related phenotypes are intellectual disability and seizures

Related Diseases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Symptoms & Phenotypes for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Human phenotypes related to X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
7 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
8 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
9 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
10 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
11 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
12 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
13 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
14 cupped ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000378
15 spastic diplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001264
16 brittle hair 59 32 frequent (33%) Frequent (79-30%) HP:0002299
17 dry hair 59 32 frequent (33%) Frequent (79-30%) HP:0011359
18 spasticity 59 Frequent (79-30%)
19 growth delay 59 Very frequent (99-80%)

Drugs & Therapeutics for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Genetic Tests for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Anatomical Context for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Publications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Variations for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Expression for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Golabi-Ito-Hall Type.

Pathways for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

GO Terms for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Sources for X-Linked Intellectual Disability, Golabi-Ito-Hall 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
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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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