MCID: INT294
MIFTS: 11

Intellectual Disability-Short Stature-Hypertelorism Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Short Stature-Hypertelorism Syndrome

MalaCards integrated aliases for Intellectual Disability-Short Stature-Hypertelorism Syndrome:

Name: Intellectual Disability-Short Stature-Hypertelorism Syndrome 58
Stoll-Geraudel-Chauvin Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA3074

Summaries for Intellectual Disability-Short Stature-Hypertelorism Syndrome

MalaCards based summary : Intellectual Disability-Short Stature-Hypertelorism Syndrome, also known as stoll-geraudel-chauvin syndrome, is related to intellectual deficit - short stature - hypertelorism. Affiliated tissues include bone, and related phenotypes are hypertelorism and frontal bossing

Related Diseases for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Diseases related to Intellectual Disability-Short Stature-Hypertelorism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual deficit - short stature - hypertelorism 11.5

Symptoms & Phenotypes for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Human phenotypes related to Intellectual Disability-Short Stature-Hypertelorism Syndrome:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
5 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
8 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
9 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445

Drugs & Therapeutics for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Genetic Tests for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Anatomical Context for Intellectual Disability-Short Stature-Hypertelorism Syndrome

MalaCards organs/tissues related to Intellectual Disability-Short Stature-Hypertelorism Syndrome:

40
Bone

Publications for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Variations for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Expression for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Search GEO for disease gene expression data for Intellectual Disability-Short Stature-Hypertelorism Syndrome.

Pathways for Intellectual Disability-Short Stature-Hypertelorism Syndrome

GO Terms for Intellectual Disability-Short Stature-Hypertelorism Syndrome

Sources for Intellectual Disability-Short Stature-Hypertelorism 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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