IDDFBA
MCID: INT328
MIFTS: 21

Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities (IDDFBA)

Categories: Genetic diseases

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

MalaCards integrated aliases for Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities:

Name: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities 58 76 6
Iddfba 58 76
Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in infancy or first years of life


HPO:

33
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities:
Onset and clinical course variable expressivity


Classifications:



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

UniProtKB/Swiss-Prot : 76 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities: An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism.

MalaCards based summary : Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities, is also known as iddfba. An important gene associated with Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities is FBXO11 (F-Box Protein 11). Affiliated tissues include eye, and related phenotypes are seizures and hypertelorism

Description from OMIM: 618089

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

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

Human phenotypes related to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 clinodactyly 33 HP:0030084
5 intellectual disability 33 HP:0001249
6 global developmental delay 33 HP:0001263
7 delayed speech and language development 33 HP:0000750
8 pes planus 33 HP:0001763
9 microtia 33 HP:0008551
10 microcephaly 33 HP:0000252
11 long philtrum 33 HP:0000343
12 strabismus 33 HP:0000486
13 short foot 33 HP:0001773
14 everted lower lip vermilion 33 HP:0000232
15 deeply set eye 33 HP:0000490
16 small hand 33 HP:0200055
17 downslanted palpebral fissures 33 HP:0000494
18 narrow mouth 33 HP:0000160
19 sandal gap 33 HP:0001852
20 downturned corners of mouth 33 HP:0002714
21 long face 33 HP:0000276
22 high forehead 33 HP:0000348
23 long eyelashes 33 HP:0000527
24 plagiocephaly 33 HP:0001357
25 tapered finger 33 HP:0001182
26 hyperactivity 33 HP:0000752
27 posteriorly rotated ears 33 HP:0000358
28 hypermetropia 33 HP:0000540
29 short attention span 33 HP:0000736
30 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
long eyelashes
hypermetropia
downslanting palpebral fissures
more
Skeletal Hands:
clinodactyly
small hands
tapering fingers

Skeletal Feet:
sandal gap
flat feet
small feet

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
short attention span
autistic features
stereotypic movements
aggressive outbursts
more
Head And Neck Mouth:
small mouth
downturned corners of the mouth
everted lower lip

Growth Height:
short stature (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears

Head And Neck Face:
long philtrum
long face
dysmorphic facial features, variable

Head And Neck Head:
high forehead
plagiocephaly
small head circumference

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
speech delay
delayed walking (2 to 5 years)
intellectual disability, variable, mild to severe

Clinical features from OMIM:

618089

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

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities

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

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

MalaCards organs/tissues related to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities:

42
Eye

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

Articles related to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities:

# Title Authors Year
1
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. ( 29796876 )
2018
2
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. ( 30057029 )
2018
3
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. ( 27620904 )
2017

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

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

76
# Symbol AA change Variation ID SNP ID
1 FBXO11 p.Arg138Ser VAR_081341
2 FBXO11 p.Gln156Arg VAR_081342
3 FBXO11 p.Ile538Val VAR_081343
4 FBXO11 p.Thr623Arg VAR_081345
5 FBXO11 p.Ser840Pro VAR_081347
6 FBXO11 p.Ala892Asp VAR_081349
7 FBXO11 p.Pro905Arg VAR_081351
8 FBXO11 p.Asp910Gly VAR_081352

ClinVar genetic disease variations for Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO11 NM_025133.4(FBXO11): c.1360A> G (p.Ile454Val) single nucleotide variant Pathogenic rs1553338592 GRCh38 Chromosome 2, 47823147: 47823147
2 FBXO11 NM_025133.4(FBXO11): c.1360A> G (p.Ile454Val) single nucleotide variant Pathogenic rs1553338592 GRCh37 Chromosome 2, 48050286: 48050286
3 FBXO11 NM_025133.4(FBXO11): c.162A> T (p.Arg54Ser) single nucleotide variant Pathogenic rs1553342109 GRCh38 Chromosome 2, 47839447: 47839447
4 FBXO11 NM_025133.4(FBXO11): c.162A> T (p.Arg54Ser) single nucleotide variant Pathogenic rs1553342109 GRCh37 Chromosome 2, 48066586: 48066586
5 FBXO11 NM_025133.4(FBXO11): c.2266T> C (p.Ser756Pro) single nucleotide variant Pathogenic rs1553335247 GRCh38 Chromosome 2, 47809195: 47809195
6 FBXO11 NM_025133.4(FBXO11): c.2266T> C (p.Ser756Pro) single nucleotide variant Pathogenic rs1553335247 GRCh37 Chromosome 2, 48036334: 48036334
7 FBXO11 NM_025133.4(FBXO11): c.2457dup (p.Glu820Terfs) duplication Pathogenic rs1553334874 GRCh37 Chromosome 2, 48035332: 48035332
8 FBXO11 NM_025133.4(FBXO11): c.2457dup (p.Glu820Terfs) duplication Pathogenic rs1553334874 GRCh38 Chromosome 2, 47808193: 47808193
9 FBXO11 NM_025133.4(FBXO11): c.2486_2487del (p.Tyr829Terfs) deletion Pathogenic rs1553334863 GRCh37 Chromosome 2, 48035302: 48035303
10 FBXO11 NM_025133.4(FBXO11): c.2486_2487del (p.Tyr829Terfs) deletion Pathogenic rs1553334863 GRCh38 Chromosome 2, 47808163: 47808164
11 FBXO11 NM_025133.4(FBXO11): c.190+1dup duplication Pathogenic rs1553342101 GRCh38 Chromosome 2, 47839418: 47839418
12 FBXO11 NM_025133.4(FBXO11): c.190+1dup duplication Pathogenic rs1553342101 GRCh37 Chromosome 2, 48066557: 48066557

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

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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