IDDSADF
MCID: INT365
MIFTS: 19

Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies (IDDSADF)

Categories: Genetic diseases

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

MalaCards integrated aliases for Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

Name: Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 56 29 6 39
Intellectual Developmental Disorder with Speech Delay, Autism and Dysmorphic Facies 73 17
Iddsadf 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 56 618672
MeSH 43 D065886
MedGen 41 CN262923

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

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with speech delay, autism and dysmorphic facies: An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features.

MalaCards based summary : Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies, is also known as intellectual developmental disorder with speech delay, autism and dysmorphic facies. An important gene associated with Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies is CNOT3 (CCR4-NOT Transcription Complex Subunit 3). Affiliated tissues include eye.

More information from OMIM: 618672

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

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

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Head And Neck Eyes:
strabismus
deep-set eyes
upslanting palpebral fissures
prominent eyebrows
low-set eyebrows

Neurologic Central Nervous System:
poor speech
speech delay
learning difficulties
fine motor delay
impaired intellectual development, mild to severe
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
foot deformities

Skin Nails Hair Skin:
pigmentary abnormalities (in some patients)

Head And Neck Nose:
anteverted nares
flat nasal bridge
long columella

Head And Neck Face:
prominent forehead
short philtrum
small chin
dysmorphic facial features, highly variable

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
thin upper lip

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Hands:
small hands
tapering fingers

Clinical features from OMIM:

618672

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

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies

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

Genetic tests related to Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 29

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

40
Eye

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

Articles related to Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

# Title Authors PMID Year
1
De novo variants in CNOT3 cause a variable neurodevelopmental disorder. 6 56
31201375 2019
2
Prevalence and architecture of de novo mutations in developmental disorders. 56
28135719 2017

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

ClinVar genetic disease variations for Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNOT3 NM_014516.4(CNOT3):c.732dup (p.Ser245fs)indel Pathogenic 694669 19:54649671-54649671 19:54145930-54145931
2 CNOT3 NM_014516.4(CNOT3):c.1473_1474del (p.Gly493fs)deletion Pathogenic 694670 19:54653361-54653362 19:54149626-54149627
3 CNOT3 NM_014516.4(CNOT3):c.1866G>A (p.Trp622Ter)SNV Pathogenic 694671 19:54656325-54656325 19:54152588-54152588
4 CNOT3 NM_014516.4(CNOT3):c.1926_1927del (p.Cys643fs)deletion Pathogenic 694672 19:54656625-54656626 19:54152888-54152889
5 CNOT3 NM_014516.4(CNOT3):c.2080C>T (p.Gln694Ter)SNV Pathogenic 694673 19:54657494-54657494 19:54153757-54153757

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies:

73
# Symbol AA change Variation ID SNP ID
1 CNOT3 p.Glu20Gln VAR_083405
2 CNOT3 p.Leu48Val VAR_083406
3 CNOT3 p.Arg188Cys VAR_083409
4 CNOT3 p.Arg188His VAR_083410

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

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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