MCID: INT089
MIFTS: 5

Intellectual Deficit - Short Stature - Hypertelorism

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Deficit - Short Stature - Hypertelorism

MalaCards integrated aliases for Intellectual Deficit - Short Stature - Hypertelorism:

Name: Intellectual Deficit - Short Stature - Hypertelorism 52
Mental Retardation Short Stature Hypertelorism 52
Stoll-Géraudel-Chauvin Syndrome 52

Classifications:



Summaries for Intellectual Deficit - Short Stature - Hypertelorism

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3074 Definition Intellectual disability -short stature -hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia , typically present until infancy. There have been no further descriptions in the literature since 1991. Visit the Orphanet disease page for more resources.

MalaCards based summary : Intellectual Deficit - Short Stature - Hypertelorism, is also known as mental retardation short stature hypertelorism.

Related Diseases for Intellectual Deficit - Short Stature - Hypertelorism

Symptoms & Phenotypes for Intellectual Deficit - Short Stature - Hypertelorism

Drugs & Therapeutics for Intellectual Deficit - Short Stature - Hypertelorism

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

Genetic Tests for Intellectual Deficit - Short Stature - Hypertelorism

Anatomical Context for Intellectual Deficit - Short Stature - Hypertelorism

Publications for Intellectual Deficit - Short Stature - Hypertelorism

Articles related to Intellectual Deficit - Short Stature - Hypertelorism:

# Title Authors PMID Year
1
Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). 61
15206560 2004

Variations for Intellectual Deficit - Short Stature - Hypertelorism

Expression for Intellectual Deficit - Short Stature - Hypertelorism

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

Pathways for Intellectual Deficit - Short Stature - Hypertelorism

GO Terms for Intellectual Deficit - Short Stature - Hypertelorism

Sources for Intellectual Deficit - Short Stature - Hypertelorism

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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