MCID: INT312
MIFTS: 21

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

Categories: Genetic 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 75 6
Iddfsda 57 75
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



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)

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 Domain Containing 6B). Affiliated tissues include heart and brain, and related phenotypes are cryptorchidism and high palate

UniProtKB/Swiss-Prot : 75 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,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss
dysplastic ears
large ears
protruding ears

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Growth Height:
short stature

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

Head And Neck Face:
long philtrum
retrognathia
long face

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
sacral dimple

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

Growth Weight:
low weight

Skeletal Feet:
club feet
overriding toes

Cardiovascular Heart:
cardiac septal defects (in some patients)

Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
hypertonia
hypotonia

Neurologic Central Nervous System:
intellectual disability, severe
inability to walk
enlarged ventricles
hypoplastic corpus callosum
spastic quadriplegia
more
Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
prominent nasal bridge
broad nasal root

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

Skeletal Hands:
broad thumbs
tapered fingers
hyperextensibility of phalanges

Skeletal:
joint contractures

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder


Clinical features from OMIM:

617452

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

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 high palate 32 HP:0000218
3 thin upper lip vermilion 32 HP:0000219
4 brachycephaly 32 HP:0000248
5 microcephaly 32 HP:0000252
6 long face 32 HP:0000276
7 retrognathia 32 HP:0000278
8 long philtrum 32 HP:0000343
9 hearing impairment 32 HP:0000365
10 low-set ears 32 HP:0000369
11 macrotia 32 HP:0000400
12 protruding ear 32 HP:0000411
13 prominent nasal bridge 32 HP:0000426
14 wide nasal bridge 32 HP:0000431
15 short neck 32 HP:0000470
16 downslanted palpebral fissures 32 HP:0000494
17 long eyelashes 32 HP:0000527
18 long palpebral fissure 32 HP:0000637
19 autistic behavior 32 HP:0000729
20 sacral dimple 32 HP:0000960
21 tapered finger 32 HP:0001182
22 global developmental delay 32 HP:0001263
23 generalized hypotonia 32 HP:0001290
24 flexion contracture 32 HP:0001371
25 failure to thrive 32 HP:0001508
26 intrauterine growth retardation 32 HP:0001511
27 talipes equinovarus 32 HP:0001762
28 overlapping toe 32 HP:0001845
29 hypoplasia of the corpus callosum 32 HP:0002079
30 ventriculomegaly 32 HP:0002119
31 spastic tetraplegia 32 HP:0002510
32 inability to walk 32 HP:0002540
33 highly arched eyebrow 32 HP:0002553
34 scoliosis 32 HP:0002650
35 short stature 32 HP:0004322
36 flat occiput 32 HP:0005469
37 intellectual disability, severe 32 HP:0010864
38 broad thumb 32 HP:0011304
39 feeding difficulties 32 HP:0011968

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,...

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies:

41
Heart, Brain

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

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 Variation Type Significance SNP ID Assembly Location
1 OTUD6B NM_016023.3(OTUD6B): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs368313959 GRCh37 Chromosome 8, 92090611: 92090611
2 OTUD6B NM_016023.3(OTUD6B): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs368313959 GRCh38 Chromosome 8, 91078383: 91078383
3 OTUD6B NM_016023.3(OTUD6B): c.469_473delTTAAC (p.Leu157Argfs) deletion Pathogenic rs1064797101 GRCh37 Chromosome 8, 92090647: 92090651
4 OTUD6B NM_016023.3(OTUD6B): c.469_473delTTAAC (p.Leu157Argfs) deletion Pathogenic rs1064797101 GRCh38 Chromosome 8, 91078419: 91078423
5 OTUD6B NM_016023.3(OTUD6B): c.173-2A> G single nucleotide variant Pathogenic rs1064797102 GRCh37 Chromosome 8, 92083364: 92083364
6 OTUD6B NM_016023.3(OTUD6B): c.173-2A> G single nucleotide variant Pathogenic rs1064797102 GRCh38 Chromosome 8, 91071136: 91071136
7 OTUD6B NM_016023.3(OTUD6B): c.647A> G (p.Tyr216Cys) single nucleotide variant Likely pathogenic rs1064797103 GRCh37 Chromosome 8, 92090825: 92090825
8 OTUD6B NM_016023.3(OTUD6B): c.647A> G (p.Tyr216Cys) single nucleotide variant Likely pathogenic rs1064797103 GRCh38 Chromosome 8, 91078597: 91078597

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,...

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10 dbSNP
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17 ExPASy
19 FMA
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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