IDDILF
MCID: INT363
MIFTS: 17

Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (IDDILF)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Impaired Language and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

Name: Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies 56 73 6 17
Iddilf 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
five unrelated patients have been reported (last curated november 2019)


Classifications:



External Ids:

OMIM 56 618653
MeSH 43 D065886
MedGen 41 CN262664

Summaries for Intellectual Developmental Disorder with Impaired Language and...

OMIM : 56 Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019). (618653)

MalaCards based summary : Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies, is also known as iddilf. An important gene associated with Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies is DDX6 (DEAD-Box Helicase 6).

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with impaired language and dysmorphic facies: An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies.

Related Diseases for Intellectual Developmental Disorder with Impaired Language and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Impaired Language and...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypoplastic corpus callosum (in some patients)
delayed walking
gait difficulties
impaired intellectual development
more
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Ears:
low-set ears

Head And Neck Face:
short philtrum
prominent philtrum

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
tapering fingers

Genitourinary Kidneys:
hydronephrosis (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
social personality

Head And Neck Eyes:
hypertelorism
strabismus
hypermetropia
epicanthal folds
arched eyebrows
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Cardiovascular Heart:
atrial septal defect
patent foramen ovale
cardiac anomalies (in some patients)

Head And Neck Head:
high forehead

Skeletal Feet:
overlapping toes
foot deformities

Head And Neck Nose:
bulbous nasal tip

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

Clinical features from OMIM:

618653

Drugs & Therapeutics for Intellectual Developmental Disorder with Impaired Language and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies

Genetic Tests for Intellectual Developmental Disorder with Impaired Language and...

Anatomical Context for Intellectual Developmental Disorder with Impaired Language and...

Publications for Intellectual Developmental Disorder with Impaired Language and...

Articles related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

# Title Authors PMID Year
1
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. 56 6
31422817 2019

Variations for Intellectual Developmental Disorder with Impaired Language and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DDX6 NM_004397.6(DDX6):c.1118G>A (p.Arg373Gln)SNV Pathogenic 694349 11:118627025-118627025 11:118756316-118756316
2 DDX6 NM_004397.6(DDX6):c.1168T>C (p.Cys390Arg)SNV Pathogenic 694350 11:118626975-118626975 11:118756266-118756266
3 DDX6 NM_004397.6(DDX6):c.1172C>T (p.Thr391Ile)SNV Pathogenic 694351 11:118626971-118626971 11:118756262-118756262
4 DDX6 NM_004397.6(DDX6):c.1171A>C (p.Thr391Pro)SNV Pathogenic 694352 11:118626972-118626972 11:118756263-118756263
5 DDX6 NM_004397.6(DDX6):c.1115A>G (p.His372Arg)SNV Pathogenic 694353 11:118627028-118627028 11:118756319-118756319

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

73
# Symbol AA change Variation ID SNP ID
1 DDX6 p.His372Arg VAR_083368
2 DDX6 p.Arg373Gln VAR_083369
3 DDX6 p.Cys390Arg VAR_083370
4 DDX6 p.Thr391Ile VAR_083371
5 DDX6 p.Thr391Pro VAR_083372

Expression for Intellectual Developmental Disorder with Impaired Language and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies.

Pathways for Intellectual Developmental Disorder with Impaired Language and...

GO Terms for Intellectual Developmental Disorder with Impaired Language and...

Sources for Intellectual Developmental Disorder with Impaired Language and...

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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