IDDILF
MCID: INT363
MIFTS: 22

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 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:



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.

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:

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)

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...

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

40
Heart, Kidney

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
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 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 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....