IDDFBA
MCID: INT328
MIFTS: 25

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 57 72 29 6
Iddfba 57 72
Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



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

UniProtKB/Swiss-Prot : 72 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, also known as iddfba, is related to alacrima, achalasia, and mental retardation syndrome. 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 short stature and seizure

More information from OMIM: 618089

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

Diseases related to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4

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

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

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 hypertelorism 31 HP:0000316
6 delayed speech and language development 31 HP:0000750
7 pes planus 31 HP:0001763
8 microtia 31 HP:0008551
9 microcephaly 31 HP:0000252
10 everted lower lip vermilion 31 HP:0000232
11 strabismus 31 HP:0000486
12 low-set ears 31 HP:0000369
13 downslanted palpebral fissures 31 HP:0000494
14 narrow mouth 31 HP:0000160
15 sandal gap 31 HP:0001852
16 downturned corners of mouth 31 HP:0002714
17 long face 31 HP:0000276
18 long philtrum 31 HP:0000343
19 deeply set eye 31 HP:0000490
20 high forehead 31 HP:0000348
21 small hand 31 HP:0200055
22 tapered finger 31 HP:0001182
23 plagiocephaly 31 HP:0001357
24 short foot 31 HP:0001773
25 long eyelashes 31 HP:0000527
26 posteriorly rotated ears 31 HP:0000358
27 hyperactivity 31 HP:0000752
28 generalized hypotonia 31 HP:0001290
29 short attention span 31 HP:0000736
30 hypermetropia 31 HP:0000540
31 clinodactyly 31 HP:0030084
32 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
strabismus
long eyelashes
hypermetropia
downslanting palpebral fissures
more
Skeletal Feet:
sandal gap
flat feet
small feet

Head And Neck Head:
high forehead
plagiocephaly
small head circumference

Skeletal Hands:
clinodactyly
small hands
tapering fingers

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 face
long philtrum
dysmorphic facial features, variable

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
short attention span
autistic features
stereotypic movements
aggressive outbursts
more
Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM®:

618089 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities 29 FBXO11

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

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

40
Eye

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

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

# Title Authors PMID Year
1
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. 57 6
30679813 2019
2
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. 57 6
30057029 2018
3
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. 57 6
29796876 2018
4
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 6 57
27620904 2017
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
6
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. 61
32902151 2020

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

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

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXO11 NM_025133.4(FBXO11):c.1360A>G (p.Ile454Val) SNV Pathogenic 559600 rs1553338592 GRCh37: 2:48050286-48050286
GRCh38: 2:47823147-47823147
2 FBXO11 NM_025133.4(FBXO11):c.162A>T (p.Arg54Ser) SNV Pathogenic 559601 rs1553342109 GRCh37: 2:48066586-48066586
GRCh38: 2:47839447-47839447
3 FBXO11 NM_025133.4(FBXO11):c.2266T>C (p.Ser756Pro) SNV Pathogenic 559602 rs1553335247 GRCh37: 2:48036334-48036334
GRCh38: 2:47809195-47809195
4 FBXO11 NM_025133.4(FBXO11):c.2457dup (p.Glu820Ter) Duplication Pathogenic 559603 rs1553334874 GRCh37: 2:48035331-48035332
GRCh38: 2:47808192-47808193
5 FBXO11 NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) Microsatellite Pathogenic 559604 rs1553334863 GRCh37: 2:48035302-48035303
GRCh38: 2:47808163-47808164
6 FBXO11 NM_001190274.1(FBXO11):c.442+1dup Duplication Pathogenic 559605 rs1553342101 GRCh37: 2:48066556-48066557
GRCh38: 2:47839417-47839418
7 FBXO11 NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) Deletion Pathogenic 804255 rs1572753822 GRCh37: 2:48035355-48035356
GRCh38: 2:47808216-47808217
8 FBXO11 NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs) Deletion Pathogenic 975698 GRCh37: 2:48035338-48035341
GRCh38: 2:47808199-47808202
9 FBXO11 NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) SNV Pathogenic 976770 GRCh37: 2:48035312-48035312
GRCh38: 2:47808173-47808173
10 FBXO11 NM_001190274.2(FBXO11):c.802-1G>A SNV Pathogenic 976771 GRCh37: 2:48061851-48061851
GRCh38: 2:47834712-47834712
11 FBXO11 NM_001190274.2(FBXO11):c.2338+2T>C SNV Likely pathogenic 1031220 GRCh37: 2:48037453-48037453
GRCh38: 2:47810314-47810314
12 FBXO11 NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs) Duplication Likely pathogenic 982829 GRCh37: 2:48059940-48059941
GRCh38: 2:47832801-47832802
13 FBXO11 NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup) Duplication Likely pathogenic 984444 GRCh37: 2:48132660-48132661
GRCh38: 2:47905521-47905522
14 FBXO11 NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg) SNV Likely pathogenic 988713 GRCh37: 2:48050444-48050444
GRCh38: 2:47823305-47823305
15 FBXO11 NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg) SNV Likely pathogenic 975699 GRCh37: 2:48035342-48035342
GRCh38: 2:47808203-47808203
16 FBXO11 NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser) SNV Likely pathogenic 975955 GRCh37: 2:48040977-48040977
GRCh38: 2:47813838-47813838
17 FBXO11 NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr) SNV Likely pathogenic 917877 GRCh37: 2:48035519-48035519
GRCh38: 2:47808380-47808380
18 FBXO11 NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg) SNV Likely pathogenic 917879 GRCh37: 2:48045931-48045931
GRCh38: 2:47818792-47818792
19 FBXO11 NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) SNV Likely pathogenic 807417 rs1572764698 GRCh37: 2:48040412-48040412
GRCh38: 2:47813273-47813273
20 FBXO11 NM_001190274.2(FBXO11):c.1920+2T>A SNV Likely pathogenic 828148 rs1572776344 GRCh37: 2:48046093-48046093
GRCh38: 2:47818954-47818954
21 FBXO11 NM_025133.4(FBXO11):c.1893G>C (p.Lys631Asn) SNV Likely pathogenic 638686 rs1572764737 GRCh37: 2:48040455-48040455
GRCh38: 2:47813316-47813316
22 FBXO11 NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) SNV Likely pathogenic 690283 rs1572785471 GRCh37: 2:48050322-48050322
GRCh38: 2:47823183-47823183
23 FBXO11 NM_001190274.2(FBXO11):c.1264A>G (p.Ile422Val) SNV Uncertain significance 870601 GRCh37: 2:48059622-48059622
GRCh38: 2:47832483-47832483
24 FBXO11 NM_001190274.2(FBXO11):c.107C>T (p.Pro36Leu) SNV Uncertain significance 1031216 GRCh37: 2:48132753-48132753
GRCh38: 2:47905614-47905614
25 FBXO11 NM_001190274.2(FBXO11):c.125A>G (p.Gln42Arg) SNV Uncertain significance 1031217 GRCh37: 2:48132735-48132735
GRCh38: 2:47905596-47905596
26 FBXO11 NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val) SNV Uncertain significance 1031218 GRCh37: 2:48059519-48059519
GRCh38: 2:47832380-47832380
27 FBXO11 NM_001190274.2(FBXO11):c.172C>G (p.Pro58Ala) SNV Uncertain significance 1031219 GRCh37: 2:48132688-48132688
GRCh38: 2:47905549-47905549
28 FBXO11 NM_001190274.2(FBXO11):c.626C>G (p.Pro209Arg) SNV Uncertain significance 1031221 GRCh37: 2:48063102-48063102
GRCh38: 2:47835963-47835963
29 FBXO11 NM_001190274.2(FBXO11):c.2653A>G (p.Arg885Gly) SNV Uncertain significance 977090 GRCh37: 2:48035469-48035469
GRCh38: 2:47808330-47808330

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

72
# Symbol AA change Variation ID SNP ID
1 FBXO11 p.Arg138Ser VAR_081341 rs155334210
2 FBXO11 p.Gln156Arg VAR_081342
3 FBXO11 p.Ile538Val VAR_081343 rs155333859
4 FBXO11 p.Thr623Arg VAR_081345
5 FBXO11 p.Ser840Pro VAR_081347 rs155333524
6 FBXO11 p.Ala892Asp VAR_081349
7 FBXO11 p.Pro905Arg VAR_081351
8 FBXO11 p.Asp910Gly VAR_081352

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