IDDFSDA
MCID: INT312
MIFTS: 23

Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies (IDDFSDA)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Developmental Disorder with Dysmorphic Facies,...

MalaCards integrated aliases for Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

Name: Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 57 72 29 6
Iddfsda 57 72
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
one family with a slightly less severe phenotype has been reported


HPO:

31
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Developmental Disorder with Dysmorphic Facies,...

OMIM® : 57 IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017). (617452) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies, is also known as iddfsda. An important gene associated with Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies is OTUD6B (OTU Deubiquitinase 6B). Related phenotypes are intellectual disability, severe and seizure

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies: An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features.

Related Diseases for Intellectual Developmental Disorder with Dysmorphic Facies,...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Dysmorphic Facies,...

Human phenotypes related to Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 58 31 very rare (1%) Very frequent (99-80%) HP:0010864
2 seizure 31 very rare (1%) HP:0001250
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 short neck 58 31 very rare (1%) Frequent (79-30%) HP:0000470
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 macrotia 58 31 very rare (1%) Frequent (79-30%) HP:0000400
10 microcephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000252
11 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
12 broad thumb 58 31 very rare (1%) Frequent (79-30%) HP:0011304
13 brachycephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000248
14 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
15 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
16 retrognathia 58 31 very rare (1%) Frequent (79-30%) HP:0000278
17 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
18 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
19 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
20 highly arched eyebrow 58 31 very rare (1%) Frequent (79-30%) HP:0002553
21 thin upper lip vermilion 58 31 very rare (1%) Frequent (79-30%) HP:0000219
22 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
23 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
24 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
25 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
26 prominent nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000426
27 sacral dimple 58 31 very rare (1%) Frequent (79-30%) HP:0000960
28 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
29 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
30 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
31 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
32 feeding difficulties 58 31 very rare (1%) Frequent (79-30%) HP:0011968
33 generalized hypotonia 58 31 very rare (1%) Frequent (79-30%) HP:0001290
34 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
35 long palpebral fissure 58 31 very rare (1%) Frequent (79-30%) HP:0000637
36 overlapping toe 58 31 very rare (1%) Frequent (79-30%) HP:0001845
37 hyperextensibility of the finger joints 58 31 frequent (33%) Frequent (79-30%) HP:0001187
38 limb joint contracture 58 31 frequent (33%) Frequent (79-30%) HP:0003121
39 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
40 spastic tetraplegia 58 31 very rare (1%) Occasional (29-5%) HP:0002510
41 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
42 atrial septal defect 58 31 very rare (1%) Occasional (29-5%) HP:0001631
43 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
44 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
45 ventricular septal defect 58 31 very rare (1%) Occasional (29-5%) HP:0001629
46 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
47 autistic behavior 58 31 very rare (1%) Occasional (29-5%) HP:0000729
48 chronic constipation 58 31 very rare (1%) Occasional (29-5%) HP:0012450
49 aplasia/hypoplasia of the external ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0008772
50 cerebral palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0100021

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Neck:
short neck

Muscle Soft Tissue:
hypertonia
hypotonia

Neurologic Central Nervous System:
intellectual disability, severe
inability to walk
enlarged ventricles
hypoplastic corpus callosum
spastic quadriplegia
more
Head And Neck Face:
retrognathia
long face
long philtrum

Head And Neck Nose:
prominent nasal bridge
broad nasal root

Head And Neck Eyes:
long eyelashes
downslanting palpebral fissures
arched eyebrows
long palpebral fissures

Head And Neck Mouth:
thin upper lip
high-arched palate

Growth Weight:
low weight

Skeletal Feet:
club feet
overriding toes

Cardiovascular Heart:
cardiac septal defects (in some patients)

Skeletal Spine:
scoliosis

Growth Height:
short stature

Head And Neck Head:
brachycephaly
flat occiput
microcephaly (up to -6.5 sd)

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
hearing loss
dysplastic ears
large ears
protruding ears

Skin Nails Hair Skin:
sacral dimple

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
broad thumbs
tapered fingers
hyperextensibility of phalanges

Skeletal:
joint contractures

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

Clinical features from OMIM®:

617452 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Dysmorphic Facies,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies

Genetic Tests for Intellectual Developmental Disorder with Dysmorphic Facies,...

Genetic tests related to Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 29 OTUD6B

Anatomical Context for Intellectual Developmental Disorder with Dysmorphic Facies,...

Publications for Intellectual Developmental Disorder with Dysmorphic Facies,...

Articles related to Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

# Title Authors PMID Year
1
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. 6 57
28343629 2017

Variations for Intellectual Developmental Disorder with Dysmorphic Facies,...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTUD6B NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) SNV Pathogenic 375704 rs1064797103 GRCh37: 8:92090825-92090825
GRCh38: 8:91078597-91078597
2 OTUD6B NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) Deletion Pathogenic 375702 rs759317757 GRCh37: 8:92090644-92090648
GRCh38: 8:91078416-91078420
3 OTUD6B NM_016023.5(OTUD6B):c.83-2A>G SNV Pathogenic 375703 rs1064797102 GRCh37: 8:92083364-92083364
GRCh38: 8:91071136-91071136
4 OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) SNV Pathogenic 375701 rs368313959 GRCh37: 8:92090611-92090611
GRCh38: 8:91078383-91078383
5 OTUD6B NM_016023.5(OTUD6B):c.172G>T (p.Glu58Ter) SNV Pathogenic 1029423 GRCh37: 8:92083455-92083455
GRCh38: 8:91071227-91071227
6 OTUD6B NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter) SNV Pathogenic 1029424 GRCh37: 8:92092899-92092899
GRCh38: 8:91080671-91080671
7 OTUD6B NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) SNV Likely pathogenic 559925 rs150848976 GRCh37: 8:92092954-92092954
GRCh38: 8:91080726-91080726
8 OTUD6B NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) SNV Uncertain significance 711502 rs143832637 GRCh37: 8:92090657-92090657
GRCh38: 8:91078429-91078429
9 OTUD6B NM_016023.5(OTUD6B):c.-39A>G SNV Uncertain significance 711501 rs199542428 GRCh37: 8:92082574-92082574
GRCh38: 8:91070346-91070346
10 OTUD6B NM_016023.5(OTUD6B):c.-15G>A SNV Uncertain significance 1033385 GRCh37: 8:92082598-92082598
GRCh38: 8:91070370-91070370

Expression for Intellectual Developmental Disorder with Dysmorphic Facies,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies.

Pathways for Intellectual Developmental Disorder with Dysmorphic Facies,...

GO Terms for Intellectual Developmental Disorder with Dysmorphic Facies,...

Sources for Intellectual Developmental Disorder with Dysmorphic Facies,...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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