IDDEBF
MCID: INT390
MIFTS: 9

Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies (IDDEBF)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Epilepsy, Behavioral...

MalaCards integrated aliases for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies:

Name: Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies 57 29 6
Iddebf 57

Classifications:



External Ids:

OMIM® 57 619031

Summaries for Intellectual Developmental Disorder with Epilepsy, Behavioral...

OMIM® : 57 IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes (Kvarnung et al., 2018). (619031) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies, is also known as iddebf. An important gene associated with Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit).

Related Diseases for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Clinical features from OMIM®:

619031 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies

Genetic Tests for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Genetic tests related to Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies 29 ALG14

Anatomical Context for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Publications for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Articles related to Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies:

# Title Authors PMID Year
1
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. 6 57
30221345 2018

Variations for Intellectual Developmental Disorder with Epilepsy, Behavioral...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG14 NM_144988.4(ALG14):c.420+6_420+9del Microsatellite Pathogenic 978234 1:95492676-95492679 1:95027120-95027123

Expression for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies.

Pathways for Intellectual Developmental Disorder with Epilepsy, Behavioral...

GO Terms for Intellectual Developmental Disorder with Epilepsy, Behavioral...

Sources for Intellectual Developmental Disorder with Epilepsy, Behavioral...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....