Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IDDILF MCID: INT363 MIFTS: 22	Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (IDDILF) Categories: Bone diseases, Genetic diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁷ ⁷³ ⁶ ¹⁷

Iddilf ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

intellectual developmental disorder with impaired language and dysmorphic facies:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618653

MeSH ⁴⁴ D065886

MedGen ⁴¹ C5231444 CN262664

EFO ¹⁷ EFO_0010651

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

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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). Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and frontal bossing

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.

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

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

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

³¹ (show all 47)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	frontal bossing ³¹	very rare (1%)	HP:0002007
3	scoliosis ³¹	very rare (1%)	HP:0002650
4	high palate ³¹	very rare (1%)	HP:0000218
5	global developmental delay ³¹	very rare (1%)	HP:0001263
6	hypertelorism ³¹	very rare (1%)	HP:0000316
7	delayed speech and language development ³¹	very rare (1%)	HP:0000750
8	microcephaly ³¹	very rare (1%)	HP:0000252
9	smooth philtrum ³¹	very rare (1%)	HP:0000319
10	stereotypy ³¹	very rare (1%)	HP:0000733
11	strabismus ³¹	very rare (1%)	HP:0000486
12	cryptorchidism ³¹	very rare (1%)	HP:0000028
13	low-set ears ³¹	very rare (1%)	HP:0000369
14	obesity ³¹	very rare (1%)	HP:0001513
15	epicanthus ³¹	very rare (1%)	HP:0000286
16	micropenis ³¹	very rare (1%)	HP:0000054
17	overfolded helix ³¹	very rare (1%)	HP:0000396
18	vesicoureteral reflux ³¹	very rare (1%)	HP:0000076
19	hydronephrosis ³¹	very rare (1%)	HP:0000126
20	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
21	pelvic kidney ³¹	very rare (1%)	HP:0000125
22	cutaneous photosensitivity ³¹	very rare (1%)	HP:0000992
23	anteriorly placed anus ³¹	very rare (1%)	HP:0001545
24	tapered finger ³¹	very rare (1%)	HP:0001182
25	delayed cranial suture closure ³¹	very rare (1%)	HP:0000270
26	accelerated skeletal maturation ³¹	very rare (1%)	HP:0005616
27	hyposmia ³¹	very rare (1%)	HP:0004409
28	oligohydramnios ³¹	very rare (1%)	HP:0001562
29	hypoplasia of the corpus callosum ³¹	very rare (1%)	HP:0002079
30	feeding difficulties ³¹	very rare (1%)	HP:0011968
31	single umbilical artery ³¹	very rare (1%)	HP:0001195
32	supernumerary nipple ³¹	very rare (1%)	HP:0002558
33	recurrent infections ³¹	very rare (1%)	HP:0002719
34	tibial torsion ³¹	very rare (1%)	HP:0100694
35	difficulty walking ³¹	very rare (1%)	HP:0002355
36	muscular hypotonia of the trunk ³¹	very rare (1%)	HP:0008936
37	2-3 toe syndactyly ³¹	very rare (1%)	HP:0004691
38	hypermetropia ³¹	very rare (1%)	HP:0000540
39	narrow palpebral fissure ³¹	very rare (1%)	HP:0045025
40	narrow forehead ³¹	very rare (1%)	HP:0000341
41	patent foramen ovale ³¹	very rare (1%)	HP:0001655
42	heart murmur ³¹	very rare (1%)	HP:0030148
43	overlapping toe ³¹	very rare (1%)	HP:0001845
44	delayed cns myelination ³¹	very rare (1%)	HP:0002188
45	anisocoria ³¹	very rare (1%)	HP:0009916
46	arteria lusoria ³¹	very rare (1%)	HP:0031014
47	inguinal hernia ³¹		HP:0000023

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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

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

Head And Neck Ears:
low-set ears

Head And Neck Face:
short philtrum
prominent philtrum

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Feet:
overlapping toes
foot deformities

Head And Neck Nose:
bulbous nasal tip

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

Clinical features from OMIM®:

618653 (Updated 05-Mar-2021)

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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

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

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

⁴⁰

Heart, Kidney

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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. ⁶ ⁵⁷	Balak C...Piton A	31422817	2019

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

Genes related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DDX6	DEAD-Box Helicase 6	Protein Coding	1219.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	31422817

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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	rs1591885383	11:118627025-118627025	11:118756316-118756316
2	DDX6	NM_004397.6(DDX6):c.1168T>C (p.Cys390Arg)	SNV	Pathogenic	694350	rs1591885305	11:118626975-118626975	11:118756266-118756266
3	DDX6	NM_004397.6(DDX6):c.1172C>T (p.Thr391Ile)	SNV	Pathogenic	694351	rs1591885290	11:118626971-118626971	11:118756262-118756262
4	DDX6	NM_004397.6(DDX6):c.1171A>C (p.Thr391Pro)	SNV	Pathogenic	694352	rs1591885297	11:118626972-118626972	11:118756263-118756263
5	DDX6	NM_004397.6(DDX6):c.1115A>G (p.His372Arg)	SNV	Pathogenic	694353	rs1591885401	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
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

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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.

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

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

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

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

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:

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

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

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

Genes related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (1 elite genes):

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

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

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

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

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...