IDDSFTA
MCID: INT329
MIFTS: 20

Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities (IDDSFTA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

MalaCards integrated aliases for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

Name: Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities 57 72 29 6
Iddsfta 57 72
Intellectual Developmental Disorder with Dysmorphic Facies, Speech Delay, and T-Cell Abnormalities 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation (in most patients)
onset in first months of life


HPO:

31
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities: An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies.

MalaCards based summary : Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities, is also known as iddsfta. An important gene associated with Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities is BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B). Related phenotypes are asthma and eosinophilia

More information from OMIM: 618092

Related Diseases for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Human phenotypes related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 asthma 31 very rare (1%) HP:0002099
2 eosinophilia 31 very rare (1%) HP:0001880
3 recurrent infections 31 very rare (1%) HP:0002719
4 intellectual disability 31 HP:0001249
5 spasticity 31 HP:0001257
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 delayed speech and language development 31 HP:0000750
9 microdontia 31 HP:0000691
10 anxiety 31 HP:0000739
11 epicanthus 31 HP:0000286
12 myopia 31 HP:0000545
13 narrow mouth 31 HP:0000160
14 thin upper lip vermilion 31 HP:0000219
15 long philtrum 31 HP:0000343
16 hypodontia 31 HP:0000668
17 feeding difficulties 31 HP:0011968
18 prominent nose 31 HP:0000448
19 generalized hypotonia 31 HP:0001290
20 unsteady gait 31 HP:0002317
21 short palpebral fissure 31 HP:0012745
22 oligodontia 31 HP:0000677
23 hypermetropia 31 HP:0000540
24 myopathic facies 31 HP:0002058
25 thin eyebrow 31 HP:0045074
26 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
unsteady gait
speech delay
delayed psychomotor development
delayed walking
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
adhd

Head And Neck Teeth:
hypodontia
oligodontia
small teeth
enamel defects

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Respiratory:
asthma (in some patients)

Head And Neck Eyes:
hypertelorism
myopia
epicanthal folds
hyperopia
short palpebral fissures
more
Head And Neck Face:
long philtrum
myopathic facies

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
thin upper lip
small mouth

Immunology:
recurrent infections (in some patients)
asthma (in some patients)
allergies (in some patients)
eosinophilia (in some patients)
abnormal t cell compartment
more

Clinical features from OMIM®:

618092 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities

Genetic Tests for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Genetic tests related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities 29 BCL11B

Anatomical Context for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Publications for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Articles related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

# Title Authors PMID Year
1
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 6 57
29985992 2018
2
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities. 61
33194885 2020

Variations for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCL11B NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs) Duplication Pathogenic 560175 rs1555376035 GRCh37: 14:99640716-99640717
GRCh38: 14:99174379-99174380
2 BCL11B NM_138576.4(BCL11B):c.2671del (p.Ala891fs) Deletion Pathogenic 560176 rs1555376017 GRCh37: 14:99640502-99640502
GRCh38: 14:99174165-99174165
3 BCL11B NM_138576.4(BCL11B):c.242del (p.Cys81fs) Deletion Pathogenic 560177 rs1555384300 GRCh37: 14:99723993-99723993
GRCh38: 14:99257656-99257656
4 BCL11B NM_138576.4(BCL11B):c.1495G>T (p.Glu499Ter) SNV Pathogenic 560178 rs1555376234 GRCh37: 14:99641678-99641678
GRCh38: 14:99175341-99175341
5 BCL11B NM_138576.4(BCL11B):c.2048del (p.Ser683fs) Deletion Pathogenic 807549 rs1595214071 GRCh37: 14:99641125-99641125
GRCh38: 14:99174788-99174788
6 BCL11B NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) Duplication Pathogenic 807550 rs1595215462 GRCh37: 14:99641672-99641673
GRCh38: 14:99175335-99175336
7 BCL11B NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs) Microsatellite Pathogenic 976002 GRCh37: 14:99641402-99641403
GRCh38: 14:99175065-99175066
8 BCL11B NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter) SNV Pathogenic 988777 GRCh37: 14:99642491-99642491
GRCh38: 14:99176154-99176154
9 BCL11B NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs) Insertion Pathogenic 995958 GRCh37: 14:99640737-99640738
GRCh38: 14:99174400-99174401
10 BCL11B NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) SNV Pathogenic/Likely pathogenic 560174 rs888230251 GRCh37: 14:99640752-99640752
GRCh38: 14:99174415-99174415
11 BCL11B NM_138576.4(BCL11B):c.1742del (p.Gly581fs) Deletion Likely pathogenic 976734 GRCh37: 14:99641431-99641431
GRCh38: 14:99175094-99175094
12 BCL11B NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln) SNV Likely pathogenic 1029134 GRCh37: 14:99642388-99642388
GRCh38: 14:99176051-99176051
13 BCL11B NM_138576.4(BCL11B):c.1657G>C (p.Glu553Gln) SNV Uncertain significance 930916 GRCh37: 14:99641516-99641516
GRCh38: 14:99175179-99175179

Expression for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities.

Pathways for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

GO Terms for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

Sources for Intellectual Developmental Disorder with Speech Delay, Dysmorphic...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....