DDVIBA
MCID: DVL021
MIFTS: 26

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 73 29 6
Ddviba 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
developmental delay with variable intellectual impairment and behavioral abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



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) (Updated 05-Mar-2021)

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 eye and brain, and related phenotypes are macrocephaly and obesity

UniProtKB/Swiss-Prot : 73 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...

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

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 obesity 31 very rare (1%) HP:0001513
3 tall stature 31 very rare (1%) HP:0000098
4 seizure 31 very rare (1%) HP:0001250
5 spasticity 31 HP:0001257
6 frontal bossing 31 HP:0002007
7 sleep disturbance 31 HP:0002360
8 scoliosis 31 HP:0002650
9 ataxia 31 HP:0001251
10 constipation 31 HP:0002019
11 global developmental delay 31 HP:0001263
12 depressed nasal bridge 31 HP:0005280
13 delayed speech and language development 31 HP:0000750
14 short nose 31 HP:0003196
15 brachycephaly 31 HP:0000248
16 strabismus 31 HP:0000486
17 low-set ears 31 HP:0000369
18 anxiety 31 HP:0000739
19 epicanthus 31 HP:0000286
20 myopia 31 HP:0000545
21 inverted nipples 31 HP:0003186
22 open mouth 31 HP:0000194
23 downturned corners of mouth 31 HP:0002714
24 clinodactyly of the 5th finger 31 HP:0004209
25 obsessive-compulsive behavior 31 HP:0000722
26 thin upper lip vermilion 31 HP:0000219
27 long face 31 HP:0000276
28 deeply set eye 31 HP:0000490
29 bulbous nose 31 HP:0000414
30 high forehead 31 HP:0000348
31 midface retrusion 31 HP:0011800
32 tented upper lip vermilion 31 HP:0010804
33 tapered finger 31 HP:0001182
34 plagiocephaly 31 HP:0001357
35 feeding difficulties 31 HP:0011968
36 posteriorly rotated ears 31 HP:0000358
37 autistic behavior 31 HP:0000729
38 aggressive behavior 31 HP:0000718
39 hyperactivity 31 HP:0000752
40 generalized hypotonia 31 HP:0001290
41 poor coordination 31 HP:0002370
42 delayed ability to walk 31 HP:0031936
43 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
ataxia
global developmental delay
motor delay
poor coordination
more
Skeletal Spine:
scoliosis

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

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
hyperactivity
autism spectrum disorder
obsessive-compulsive disorder
more
Head And Neck Mouth:
open mouth
thin upper lip
downturned corners of the mouth
tented upper lip
full low lip

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 Head:
brachycephaly
plagiocephaly
macrocephaly (in some patients)

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

Chest Breasts:
inverted nipples

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
foot deformities

Growth Weight:
obesity (in some patients)

Clinical features from OMIM®:

618430 (Updated 05-Mar-2021)

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:

40
Eye, Brain

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. 57 6
30739909 2019
2
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. 57 6
27436265 2016
3
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. 57 6
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. 6
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. 57
30819258 2019
6
Prevalence and architecture of de novo mutations in developmental disorders. 57
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 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20):c.3518del (p.Lys1173fs) Deletion Pathogenic 631503 rs1569147202 22:42607794-42607794 22:42211788-42211788
2 TCF20 NM_005650.3(TCF20):c.955C>T (p.Gln319Ter) SNV Pathogenic 631504 rs1569153066 22:42610357-42610357 22:42214351-42214351
3 TCF20 NM_005650.3(TCF20):c.3837del (p.Asp1280fs) Deletion Pathogenic 631505 rs1569146455 22:42607475-42607475 22:42211469-42211469
4 TCF20 NM_005650.3(TCF20):c.310_313dup (p.Gln105fs) Duplication Pathogenic 631506 rs1569154591 22:42610998-42610999 22:42214992-42214993
5 TCF20 NM_005650.3(TCF20):c.594dup (p.Gly199fs) Duplication Pathogenic 631507 rs1569153986 22:42610717-42610718 22:42214711-42214712
6 TCF20 NM_005650.3(TCF20):c.1520del (p.Pro507fs) Deletion Pathogenic 631508 rs1569151886 22:42609792-42609792 22:42213786-42213786
7 TCF20 NM_005650.3(TCF20):c.697C>T (p.Gln233Ter) SNV Pathogenic 599638 rs751610641 22:42610615-42610615 22:42214609-42214609
8 TCF20 NM_005650.3(TCF20):c.1960C>T (p.Gln654Ter) SNV Pathogenic 599641 rs1569150885 22:42609352-42609352 22:42213346-42213346
9 TCF20 NM_005650.3(TCF20):c.2224C>T (p.Arg742Ter) SNV Pathogenic 521787 rs1555926209 22:42609088-42609088 22:42213082-42213082
10 TCF20 NM_005650.3(TCF20):c.4441_4444dup (p.Ser1482fs) Duplication Pathogenic 807512 rs1601593180 22:42606867-42606868 22:42210861-42210862
11 TCF20 NM_001378418.1(TCF20):c.1249C>T (p.Gln417Ter) SNV Pathogenic 816895 rs1601602492 22:42610063-42610063 22:42214057-42214057
12 TCF20 NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs) Deletion Pathogenic 975623 22:42606327-42606330 22:42210321-42210324
13 TCF20 NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter) SNV Pathogenic 976676 22:42609112-42609112 22:42213106-42213106
14 TCF20 NM_001378418.1(TCF20):c.5187T>G (p.Tyr1729Ter) SNV Pathogenic 982388 22:42606125-42606125 22:42210119-42210119
15 TCF20 NM_001378418.1(TCF20):c.3125G>C (p.Arg1042Thr) SNV Uncertain significance 982861 22:42608187-42608187 22:42212181-42212181
16 TCF20 NM_001378418.1(TCF20):c.5387G>A (p.Gly1796Asp) SNV Uncertain significance 978454 22:42605925-42605925 22:42209919-42209919
17 TCF20 NM_001378418.1(TCF20):c.278C>T (p.Ala93Val) SNV Uncertain significance 915397 22:42611034-42611034 22:42215028-42215028
18 TCF20 NM_001378418.1(TCF20):c.4115G>A (p.Ser1372Asn) SNV Uncertain significance 930483 22:42607197-42607197 22:42211191-42211191
19 TCF20 NM_005650.3(TCF20):c.4670C>T (p.Pro1557Leu) SNV Benign 803707 rs199838890 22:42606642-42606642 22:42210636-42210636

UniProtKB/Swiss-Prot genetic disease variations for Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities:

73
# Symbol AA change Variation ID SNP ID
1 TCF20 p.His1909Tyr VAR_082696

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
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
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