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 56 73 29 6
Ddviba 56 73

Characteristics:

OMIM:

56
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 : 56 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 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 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 scoliosis 31 HP:0002650
8 delayed speech and language development 31 HP:0000750
9 sleep disturbance 31 HP:0002360
10 short nose 31 HP:0003196
11 brachycephaly 31 HP:0000248
12 spasticity 31 HP:0001257
13 ataxia 31 HP:0001251
14 feeding difficulties 31 HP:0011968
15 frontal bossing 31 HP:0002007
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 constipation 31 HP:0002019
30 bulbous nose 31 HP:0000414
31 high forehead 31 HP:0000348
32 abnormality of the foot 31 HP:0001760
33 midface retrusion 31 HP:0011800
34 tented upper lip vermilion 31 HP:0010804
35 tapered finger 31 HP:0001182
36 plagiocephaly 31 HP:0001357
37 posteriorly rotated ears 31 HP:0000358
38 autistic behavior 31 HP:0000729
39 aggressive behavior 31 HP:0000718
40 hyperactivity 31 HP:0000752
41 generalized hypotonia 31 HP:0001290
42 poor coordination 31 HP:0002370
43 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
ataxia
motor delay
poor coordination
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
feeding difficulties
constipation

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 Nose:
depressed nasal bridge
short nose
bulbous nose

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

Head And Neck Face:
frontal bossing
long face
midface hypoplasia
tall forehead
dysmorphic facial features, variable
more
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

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

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. 6 56
30739909 2019
2
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. 6 56
27436265 2016
3
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. 56 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. 56
30819258 2019
6
Prevalence and architecture of de novo mutations in developmental disorders. 56
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20):c.2224C>T (p.Arg742Ter)SNV Pathogenic 521787 rs1555926209 22:42609088-42609088 22:42213082-42213082
2 TCF20 NM_005650.3(TCF20):c.697C>T (p.Gln233Ter)SNV Pathogenic 599638 rs751610641 22:42610615-42610615 22:42214609-42214609
3 TCF20 NM_005650.3(TCF20):c.1960C>T (p.Gln654Ter)SNV Pathogenic 599641 rs1569150885 22:42609352-42609352 22:42213346-42213346
4 TCF20 NM_005650.3(TCF20):c.3518del (p.Lys1173fs)deletion Pathogenic 631503 rs1569147202 22:42607794-42607794 22:42211788-42211788
5 TCF20 NM_005650.3(TCF20):c.955C>T (p.Gln319Ter)SNV Pathogenic 631504 rs1569153066 22:42610357-42610357 22:42214351-42214351
6 TCF20 NM_005650.3(TCF20):c.3837del (p.Asp1280fs)deletion Pathogenic 631505 rs1569146455 22:42607475-42607475 22:42211469-42211469
7 TCF20 NM_005650.3(TCF20):c.310_313dup (p.Gln105fs)duplication Pathogenic 631506 rs1569154591 22:42610998-42610999 22:42214992-42214993
8 TCF20 NM_005650.3(TCF20):c.594dup (p.Gly199fs)duplication Pathogenic 631507 rs1569153986 22:42610717-42610718 22:42214711-42214712
9 TCF20 NM_005650.3(TCF20):c.1520del (p.Pro507fs)deletion Pathogenic 631508 rs1569151886 22:42609792-42609792 22:42213786-42213786
10 TCF20 NM_005650.3(TCF20):c.4441_4444dup (p.Ser1482fs)duplication Pathogenic 807512 22:42606867-42606868 22:42210861-42210862
11 TCF20 NM_005650.4(TCF20):c.1249C>T (p.Gln417Ter)SNV Pathogenic 816895 22:42610063-42610063 22:42214057-42214057
12 TCF20 NM_005650.4(TCF20):c.278C>T (p.Ala93Val)SNV Uncertain significance 915397 22:42611034-42611034 22:42215028-42215028
13 TCF20 NM_005650.3(TCF20):c.4670C>T (p.Pro1557Leu)SNV Benign 803707 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...

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30 HMDB
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