MCID: INT328
MIFTS: 16

Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities

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 6
Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities 40
Iddfba 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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...

MalaCards based summary : Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities, is also known as intellectual developmental disorder, dysmorphic facies, behavioral abnormalities. 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 hypertelorism and low-set ears

Description from OMIM: 618089

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

41
Eye

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

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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXO11 NM_025133.4(FBXO11): c.1360A> G (p.Ile454Val) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 47823147: 47823147
2 FBXO11 NM_025133.4(FBXO11): c.1360A> G (p.Ile454Val) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 48050286: 48050286
3 FBXO11 NM_025133.4(FBXO11): c.162A> T (p.Arg54Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 47839447: 47839447
4 FBXO11 NM_025133.4(FBXO11): c.162A> T (p.Arg54Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 48066586: 48066586
5 FBXO11 NM_025133.4(FBXO11): c.2266T> C (p.Ser756Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 47809195: 47809195
6 FBXO11 NM_025133.4(FBXO11): c.2266T> C (p.Ser756Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 48036334: 48036334
7 FBXO11 NM_025133.4(FBXO11): c.2457dup (p.Glu820Terfs) duplication Pathogenic GRCh37 Chromosome 2, 48035332: 48035332
8 FBXO11 NM_025133.4(FBXO11): c.2457dup (p.Glu820Terfs) duplication Pathogenic GRCh38 Chromosome 2, 47808193: 47808193
9 FBXO11 NM_025133.4(FBXO11): c.2486_2487del (p.Tyr829Terfs) deletion Pathogenic GRCh37 Chromosome 2, 48035302: 48035303
10 FBXO11 NM_025133.4(FBXO11): c.2486_2487del (p.Tyr829Terfs) deletion Pathogenic GRCh38 Chromosome 2, 47808163: 47808164
11 FBXO11 NM_025133.4(FBXO11): c.190+1dup duplication Pathogenic GRCh38 Chromosome 2, 47839418: 47839418
12 FBXO11 NM_025133.4(FBXO11): c.190+1dup duplication Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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