MCID: XLN211
MIFTS: 16

X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for X-Linked Intellectual...

MalaCards integrated aliases for X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome:

Name: X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 60
Young-Hughes Syndrome 60
Young Hughes Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for X-Linked Intellectual...

MalaCards based summary : X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome, is also known as young-hughes syndrome. Affiliated tissues include testes, skin and eye, and related phenotypes are obesity and intellectual disability

Related Diseases for X-Linked Intellectual...

Symptoms & Phenotypes for X-Linked Intellectual...

Human phenotypes related to X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
8 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
9 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
10 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
11 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
12 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
13 aplasia/hypoplasia of the testes 60 33 hallmark (90%) Very frequent (99-80%) HP:0010468
14 ichthyosis 60 33 frequent (33%) Frequent (79-30%) HP:0008064
15 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
16 hernia of the abdominal wall 60 33 occasional (7.5%) Occasional (29-5%) HP:0004299
17 eczema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000964
18 cutaneous photosensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000992

Drugs & Therapeutics for X-Linked Intellectual...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome

Genetic Tests for X-Linked Intellectual...

Anatomical Context for X-Linked Intellectual...

MalaCards organs/tissues related to X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome:

42
Testes, Skin, Eye

Publications for X-Linked Intellectual...

Variations for X-Linked Intellectual...

Expression for X-Linked Intellectual...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome.

Pathways for X-Linked Intellectual...

GO Terms for X-Linked Intellectual...

Sources for X-Linked Intellectual...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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