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 57

Classifications:



External Ids:

OMIM 57 605856
MedGen 42 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? 8
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. 8
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 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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