DDVIBA
MCID: DVL021
MIFTS: 22

Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities (DDVIBA)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Developmental Delay with Variable Intellectual Impairment and...

MalaCards integrated aliases for Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

Name: Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 57 74 29 6
Ddviba 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation (in most patients)


Classifications:



External Ids:

OMIM 57 618430
MeSH 44 D065886
MedGen 42 CN258437

Summaries for Developmental Delay with Variable Intellectual Impairment and...

OMIM : 57 Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by Vetrini et al., 2019 and Torti et al., 2019). (618430)

MalaCards based summary : Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities, is also known as ddviba. An important gene associated with Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities is TCF20 (Transcription Factor 20). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 74 Developmental delay with variable intellectual impairment and behavioral abnormalities: An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation.

Related Diseases for Developmental Delay with Variable Intellectual Impairment and...

Symptoms & Phenotypes for Developmental Delay with Variable Intellectual Impairment and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
ataxia
spasticity
global developmental delay
motor delay
poor coordination
more
Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
plagiocephaly
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
anxiety
aggressive behavior
obsessive-compulsive disorder
autism spectrum disorder
more
Chest Breasts:
inverted nipples

Skeletal Hands:
fifth finger clinodactyly
tapering fingers

Growth Height:
tall stature (in some patients)

Growth Other:
somatic overgrowth (in some patients)

Head And Neck Face:
frontal bossing
long face
midface hypoplasia
tall forehead
dysmorphic facial features, variable
more
Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Nose:
depressed nasal bridge
short nose
bulbous nose

Head And Neck Mouth:
open mouth
thin upper lip
downturned corners of the mouth
tented upper lip
full low lip

Head And Neck Eyes:
strabismus
myopia
epicanthal folds
deep-set eyes

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
foot deformities

Growth Weight:
obesity (in some patients)

Clinical features from OMIM:

618430

Drugs & Therapeutics for Developmental Delay with Variable Intellectual Impairment and...

Search Clinical Trials , NIH Clinical Center for Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities

Genetic Tests for Developmental Delay with Variable Intellectual Impairment and...

Genetic tests related to Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

# Genetic test Affiliating Genes
1 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 29 TCF20

Anatomical Context for Developmental Delay with Variable Intellectual Impairment and...

MalaCards organs/tissues related to Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

41
Brain, Eye

Publications for Developmental Delay with Variable Intellectual Impairment and...

Articles related to Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

# Title Authors PMID Year
1
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. 8 71
30739909 2019
2
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. 8 71
27436265 2016
3
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. 8 71
25228304 2014
4
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. 71
30909959 2019
5
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. 8
30819258 2019
6
Prevalence and architecture of de novo mutations in developmental disorders. 8
28135719 2017

Variations for Developmental Delay with Variable Intellectual Impairment and...

ClinVar genetic disease variations for Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic rs1555926209 22:42609088-42609088 22:42213082-42213082
2 TCF20 NM_005650.3(TCF20): c.697C> T (p.Gln233Ter) single nucleotide variant Pathogenic 22:42610615-42610615 22:42214609-42214609
3 TCF20 NM_005650.3(TCF20): c.1960C> T (p.Gln654Ter) single nucleotide variant Pathogenic 22:42609352-42609352 22:42213346-42213346
4 TCF20 NM_005650.3(TCF20): c.3518del (p.Lys1173fs) deletion Pathogenic 22:42607794-42607794 22:42211788-42211788
5 TCF20 NM_005650.3(TCF20): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic 22:42610357-42610357 22:42214351-42214351
6 TCF20 NM_005650.3(TCF20): c.3837del (p.Asp1280fs) deletion Pathogenic 22:42607475-42607475 22:42211469-42211469
7 TCF20 NM_005650.3(TCF20): c.310_313dup (p.Gln105fs) duplication Pathogenic 22:42610999-42611002 22:42214993-42214996
8 TCF20 NM_005650.3(TCF20): c.594dup (p.Gly199fs) duplication Pathogenic 22:42610718-42610718 22:42214712-42214712
9 TCF20 NM_005650.3(TCF20): c.1520del (p.Pro507fs) deletion Pathogenic 22:42609792-42609792 22:42213786-42213786

Expression for Developmental Delay with Variable Intellectual Impairment and...

Search GEO for disease gene expression data for Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities.

Pathways for Developmental Delay with Variable Intellectual Impairment and...

GO Terms for Developmental Delay with Variable Intellectual Impairment and...

Sources for Developmental Delay with Variable Intellectual Impairment and...

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
Content
Loading form....