MCID: INT284
MIFTS: 10

Intellectual Disability-Cataracts-Kyphosis Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Cataracts-Kyphosis Syndrome

MalaCards integrated aliases for Intellectual Disability-Cataracts-Kyphosis Syndrome:

Name: Intellectual Disability-Cataracts-Kyphosis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-cataracts-kyphosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Intellectual Disability-Cataracts-Kyphosis Syndrome

MalaCards based summary : Intellectual Disability-Cataracts-Kyphosis Syndrome Affiliated tissues include eye, and related phenotypes are failure to thrive and cataract

Related Diseases for Intellectual Disability-Cataracts-Kyphosis Syndrome

Symptoms & Phenotypes for Intellectual Disability-Cataracts-Kyphosis Syndrome

Human phenotypes related to Intellectual Disability-Cataracts-Kyphosis Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
3 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
4 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
7 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
8 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
9 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
10 thoracic kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002942
11 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
12 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
13 facial hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000329

Drugs & Therapeutics for Intellectual Disability-Cataracts-Kyphosis Syndrome

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Cataracts-Kyphosis Syndrome

Genetic Tests for Intellectual Disability-Cataracts-Kyphosis Syndrome

Anatomical Context for Intellectual Disability-Cataracts-Kyphosis Syndrome

MalaCards organs/tissues related to Intellectual Disability-Cataracts-Kyphosis Syndrome:

40
Eye

Publications for Intellectual Disability-Cataracts-Kyphosis Syndrome

Variations for Intellectual Disability-Cataracts-Kyphosis Syndrome

Expression for Intellectual Disability-Cataracts-Kyphosis Syndrome

Search GEO for disease gene expression data for Intellectual Disability-Cataracts-Kyphosis Syndrome.

Pathways for Intellectual Disability-Cataracts-Kyphosis Syndrome

GO Terms for Intellectual Disability-Cataracts-Kyphosis Syndrome

Sources for Intellectual Disability-Cataracts-Kyphosis Syndrome

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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