MCID: SVR082
MIFTS: 9

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 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA436141

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 obligate (100%) Obligate (100%) HP:0002857
2 muscular hypotonia 59 32 obligate (100%) Obligate (100%) HP:0001252
3 coarse facial features 59 32 obligate (100%) Obligate (100%) HP:0000280
4 intellectual disability, severe 59 32 obligate (100%) Obligate (100%) HP:0010864
5 strabismus 59 32 obligate (100%) Obligate (100%) HP:0000486
6 abnormality of the ankles 59 32 obligate (100%) Obligate (100%) HP:0003028
7 finger joint hypermobility 59 32 obligate (100%) Obligate (100%) HP:0006094
8 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
9 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
10 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
11 sleep disturbance 59 32 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:

41
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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