MCID: INT329
MIFTS: 16

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

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities:
Onset and clinical course phenotypic variability


Classifications:



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

MalaCards based summary : Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities, is also known as intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities. An important gene associated with Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities is BCL11B (BCL11B, BAF Complex Component). Affiliated tissues include t cells, and related phenotypes are hypertelorism and intellectual disability

Description from OMIM: 618092

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
myopia
epicanthal folds
hyperopia
short palpebral fissures
more
Head And Neck Face:
long philtrum
myopathic facies

Head And Neck Teeth:
hypodontia
oligodontia
small teeth
enamel defects

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Respiratory:
asthma (in some patients)

Neurologic Central Nervous System:
spasticity
unsteady gait
delayed psychomotor development
speech delay
delayed walking
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
adhd

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
small mouth
thin upper lip

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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 spasticity 32 HP:0001257
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 long philtrum 32 HP:0000343
7 epicanthus 32 HP:0000286
8 microdontia 32 HP:0000691
9 anxiety 32 HP:0000739
10 myopia 32 HP:0000545
11 narrow mouth 32 HP:0000160
12 asthma 32 very rare (1%) HP:0002099
13 recurrent infections 32 very rare (1%) HP:0002719
14 thin upper lip vermilion 32 HP:0000219
15 hypodontia 32 HP:0000668
16 myopathic facies 32 HP:0002058
17 eosinophilia 32 very rare (1%) HP:0001880
18 short palpebral fissure 32 HP:0012745
19 unsteady gait 32 HP:0002317
20 oligodontia 32 HP:0000677
21 hypermetropia 32 HP:0000540
22 thin eyebrow 32 HP:0045074
23 delayed ability to walk 32 HP:0031936

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...

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities:

41
T Cells

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL11B NM_138576.3(BCL11B): c.2449_2456dup (p.Gly820Alafs) duplication Pathogenic GRCh37 Chromosome 14, 99640717: 99640724
2 BCL11B NM_138576.3(BCL11B): c.2449_2456dup (p.Gly820Alafs) duplication Pathogenic GRCh38 Chromosome 14, 99174380: 99174387
3 BCL11B NM_138576.3(BCL11B): c.2671delG (p.Ala891Profs) deletion Pathogenic GRCh37 Chromosome 14, 99640502: 99640502
4 BCL11B NM_138576.3(BCL11B): c.2671delG (p.Ala891Profs) deletion Pathogenic GRCh38 Chromosome 14, 99174165: 99174165
5 BCL11B NM_138576.3(BCL11B): c.242delG (p.Cys81Leufs) deletion Pathogenic GRCh37 Chromosome 14, 99723993: 99723993
6 BCL11B NM_138576.3(BCL11B): c.242delG (p.Cys81Leufs) deletion Pathogenic GRCh38 Chromosome 14, 99257656: 99257656
7 BCL11B NM_138576.3(BCL11B): c.1495G> T (p.Glu499Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 99175341: 99175341
8 BCL11B NM_138576.3(BCL11B): c.1495G> T (p.Glu499Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 99641678: 99641678

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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