IDDHBA
MCID: INT368
MIFTS: 10

Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities (IDDHBA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Hypotonia and Behavioral...

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

Name: Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities 56 6
Iddhba 56

Classifications:



External Ids:

OMIM 56 618748

Summaries for Intellectual Developmental Disorder with Hypotonia and Behavioral...

OMIM : 56 Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019). (618748)

MalaCards based summary : Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities, is also known as iddhba. An important gene associated with Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities is CDK8 (Cyclin Dependent Kinase 8). Affiliated tissues include heart.

Related Diseases for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Clinical features from OMIM:

618748

Drugs & Therapeutics for Intellectual Developmental Disorder with Hypotonia and Behavioral...

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

Genetic Tests for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Anatomical Context for Intellectual Developmental Disorder with Hypotonia and Behavioral...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

40
Heart

Publications for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Articles related to Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

# Title Authors PMID Year
1
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 56 6
30905399 2019

Variations for Intellectual Developmental Disorder with Hypotonia and Behavioral...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDK8 NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)SNV Pathogenic 805981 13:26911760-26911760 13:26337623-26337623
2 CDK8 NM_001260.3(CDK8):c.85C>G (p.Arg29Gly)SNV Pathogenic 805982 13:26828863-26828863 13:26254726-26254726
3 CDK8 NM_001260.3(CDK8):c.88G>A (p.Gly30Ser)SNV Pathogenic 805983 13:26828866-26828866 13:26254729-26254729
4 CDK8 NM_001260.2:c.578T>GSNV Pathogenic 805984
5 CDK8 NM_001260.3(CDK8):c.669A>G (p.Ile223Met)SNV Pathogenic 805985 13:26967526-26967526 13:26393389-26393389

Expression for Intellectual Developmental Disorder with Hypotonia and Behavioral...

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

Pathways for Intellectual Developmental Disorder with Hypotonia and Behavioral...

GO Terms for Intellectual Developmental Disorder with Hypotonia and Behavioral...

Sources for Intellectual Developmental Disorder with Hypotonia and Behavioral...

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....