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 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 58 31 obligate (100%) Obligate (100%) HP:0002857
2 muscular hypotonia 58 31 obligate (100%) Obligate (100%) HP:0001252
3 coarse facial features 58 31 obligate (100%) Obligate (100%) HP:0000280
4 intellectual disability, severe 58 31 obligate (100%) Obligate (100%) HP:0010864
5 strabismus 58 31 obligate (100%) Obligate (100%) HP:0000486
6 abnormality of the ankles 58 31 obligate (100%) Obligate (100%) HP:0003028
7 finger joint hypermobility 58 31 obligate (100%) Obligate (100%) HP:0006094
8 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
9 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
10 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288

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:

40
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
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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