GDSBA
MCID: GLB029
MIFTS: 8

Global Developmental Delay with Speech and Behavioral Abnormalities (GDSBA)

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay with Speech and Behavioral...

MalaCards integrated aliases for Global Developmental Delay with Speech and Behavioral Abnormalities:

Name: Global Developmental Delay with Speech and Behavioral Abnormalities 57
Gdsba 57

Classifications:



External Ids:

OMIM® 57 619243

Summaries for Global Developmental Delay with Speech and Behavioral...

OMIM® : 57 Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by Granadillo et al., 2020). (619243) (Updated 05-Apr-2021)

MalaCards based summary : Global Developmental Delay with Speech and Behavioral Abnormalities, is also known as gdsba. An important gene associated with Global Developmental Delay with Speech and Behavioral Abnormalities is TNRC6B (Trinucleotide Repeat Containing Adaptor 6B). Affiliated tissues include brain.

Related Diseases for Global Developmental Delay with Speech and Behavioral...

Symptoms & Phenotypes for Global Developmental Delay with Speech and Behavioral...

Clinical features from OMIM®:

619243 (Updated 05-Apr-2021)

Drugs & Therapeutics for Global Developmental Delay with Speech and Behavioral...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay with Speech and Behavioral Abnormalities

Genetic Tests for Global Developmental Delay with Speech and Behavioral...

Anatomical Context for Global Developmental Delay with Speech and Behavioral...

MalaCards organs/tissues related to Global Developmental Delay with Speech and Behavioral Abnormalities:

40
Brain

Publications for Global Developmental Delay with Speech and Behavioral...

Articles related to Global Developmental Delay with Speech and Behavioral Abnormalities:

# Title Authors PMID Year
1
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. 57
32152250 2020
2
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 57
29463886 2019

Variations for Global Developmental Delay with Speech and Behavioral...

Expression for Global Developmental Delay with Speech and Behavioral...

Search GEO for disease gene expression data for Global Developmental Delay with Speech and Behavioral Abnormalities.

Pathways for Global Developmental Delay with Speech and Behavioral...

GO Terms for Global Developmental Delay with Speech and Behavioral...

Sources for Global Developmental Delay with Speech and 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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