MCID: XLN156
MIFTS: 12

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

Categories: Fetal diseases, Neuronal 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 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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 macroglossia

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
6 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
7 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
8 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
9 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
10 cupped ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000378
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
13 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
14 spastic diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001264
15 brittle hair 58 31 frequent (33%) Frequent (79-30%) HP:0002299
16 dry hair 58 31 frequent (33%) Frequent (79-30%) HP:0011359
17 seizure 31 occasional (7.5%) HP:0001250
18 seizures 58 Occasional (29-5%)
19 spasticity 58 Frequent (79-30%)
20 growth delay 58 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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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