IDNADFS
MCID: INT362
MIFTS: 16

Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies (IDNADFS)

Categories: Bone diseases, Genetic diseases

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

MalaCards integrated aliases for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:

Name: Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 56 6
Idnadfs 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable features
de novo mutation or deletion


Classifications:



External Ids:

OMIM 56 618608

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

OMIM : 56 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by Alesi et al., 2019 and Uehara et al., 2019). (618608)

MalaCards based summary : Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies, is also known as idnadfs. An important gene associated with Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies is CNOT2 (CCR4-NOT Transcription Complex Subunit 2). Affiliated tissues include eye and heart.

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

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
hypotelorism
long eyelashes
thick eyebrows
deep-set eyes
more
Chest External Features:
pectus excavatum

Skeletal Feet:
pes planus
2-3 toe syndactyly
hammertoes

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
anteverted nares
bulbous nose
long nose

Voice:
nasal speech

Neurologic Central Nervous System:
learning disabilities
speech delay
global developmental delay, mild
impaired intellectual development, mild
delayed walking, mild (2 to 3 years)

Growth Other:
failure to thrive (in some patients)
poor growth (in some patients)

Cardiovascular Heart:
congenital heart defects (rare)

Head And Neck Ears:
low-set ears
hypoplastic ears

Skeletal Spine:
scoliosis
kyphosis

Skeletal Hands:
brachydactyly
broad thumbs

Head And Neck Face:
micrognathia
smooth philtrum
long face
triangular face
midface hypoplasia
more
Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate

Muscle Soft Tissue:
hypotonia

Endocrine Features:
hypothyroidism (in some patients)

Head And Neck Teeth:
tooth misalignment

Clinical features from OMIM:

618608

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

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies

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

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:

40
Eye, Heart

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

Articles related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:

# Title Authors PMID Year
1
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. 6 56
31512373 2019
2
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. 56 6
31145527 2019
3
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome. 56
30768759 2019
4
Reassessment of the 12q15 deletion syndrome critical region. 56
28159701 2017
5
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. 56
22247066 2012
6
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. 56
21505450 2011
7
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. 56
18076123 2008

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

ClinVar genetic disease variations for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNOT2 CNOT2, 85-KB DELdeletion Pathogenic 691599
2 CNOT2 NM_014515.6(CNOT2):c.946A>T (p.Lys316Ter)SNV Pathogenic 691600 12:70732268-70732268 12:70338488-70338488

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

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies.

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

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

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

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
Content
Loading form....