MCID: SVR082
MIFTS: 11

Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome

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

Aliases & Classifications for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

MalaCards integrated aliases for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome:

Name: Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult;

Classifications:



Summaries for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

MalaCards based summary : Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome Affiliated tissues include eye, and related phenotypes are genu valgum and muscular hypotonia

Related Diseases for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Symptoms & Phenotypes for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Human phenotypes related to Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 obligate (100%) Obligate (100%) HP:0002857
2 muscular hypotonia 60 33 obligate (100%) Obligate (100%) HP:0001252
3 coarse facial features 60 33 obligate (100%) Obligate (100%) HP:0000280
4 intellectual disability, severe 60 33 obligate (100%) Obligate (100%) HP:0010864
5 strabismus 60 33 obligate (100%) Obligate (100%) HP:0000486
6 abnormality of the ankles 60 33 obligate (100%) Obligate (100%) HP:0003028
7 finger joint hypermobility 60 33 obligate (100%) Obligate (100%) HP:0006094
8 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
9 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
10 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
11 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360

Drugs & Therapeutics for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Search Clinical Trials , NIH Clinical Center for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome

Genetic Tests for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Anatomical Context for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

MalaCards organs/tissues related to Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome:

42
Eye

Publications for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Variations for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Expression for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Search GEO for disease gene expression data for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome.

Pathways for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

GO Terms for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

Sources for Severe Intellectual Disability-Hypotonia-Strabismus-Coarse...

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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