MCID: SHR110
MIFTS: 6

Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

MalaCards integrated aliases for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting:

Name: Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 56

Classifications:



External Ids:

OMIM 56 605856
MedGen 41 C1970039

Summaries for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

MalaCards based summary : Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting

More information from OMIM: 605856

Related Diseases for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Symptoms & Phenotypes for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Clinical features from OMIM:

605856

Drugs & Therapeutics for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Search Clinical Trials , NIH Clinical Center for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting

Genetic Tests for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Anatomical Context for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Publications for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Articles related to Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting:

# Title Authors PMID Year
1
Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? 56
15316972 2004
2
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients. 56
10564877 1999

Variations for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Expression for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Search GEO for disease gene expression data for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting.

Pathways for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

GO Terms for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

Sources for Short Stature, Mental Retardation, Callosal Agenesis, Heminasal...

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
Content
Loading form....