IDDSSBA
MCID: INT366
MIFTS: 6

Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities (IDDSSBA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Short Stature and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

Name: Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities 56
Iddssba 56

Classifications:



External Ids:

OMIM 56 618687

Summaries for Intellectual Developmental Disorder with Short Stature and...

MalaCards based summary : Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities, is also known as iddssba. An important gene associated with Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities is IQSEC1 (IQ Motif And Sec7 Domain ArfGEF 1).

More information from OMIM: 618687

Related Diseases for Intellectual Developmental Disorder with Short Stature and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Short Stature and...

Clinical features from OMIM:

618687

Drugs & Therapeutics for Intellectual Developmental Disorder with Short Stature and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities

Genetic Tests for Intellectual Developmental Disorder with Short Stature and...

Anatomical Context for Intellectual Developmental Disorder with Short Stature and...

Publications for Intellectual Developmental Disorder with Short Stature and...

Articles related to Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

# Title Authors PMID Year
1
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 56
31607425 2019

Variations for Intellectual Developmental Disorder with Short Stature and...

Expression for Intellectual Developmental Disorder with Short Stature and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities.

Pathways for Intellectual Developmental Disorder with Short Stature and...

GO Terms for Intellectual Developmental Disorder with Short Stature and...

Sources for Intellectual Developmental Disorder with Short Stature and...

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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