MCID: INT300
MIFTS: 12

Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

MalaCards integrated aliases for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

Name: Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome 58
Intellectual Disability-Loss of Expressive Language-Facial Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-expressive aphasia-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

MalaCards based summary : Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome, is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome. An important gene associated with Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome is SETBP1 (SET Binding Protein 1). Related phenotypes are delayed speech and language development and motor delay

Related Diseases for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Symptoms & Phenotypes for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Human phenotypes related to Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
3 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
4 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
5 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
6 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
7 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
8 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
9 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
10 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
11 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
12 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
13 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
14 incomprehensible speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002546
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 abnormal facial shape 58 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome

Genetic Tests for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Anatomical Context for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Publications for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Articles related to Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome:

# Title Authors PMID Year
1
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 6
25217958 2014

Variations for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Expression for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Search GEO for disease gene expression data for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome.

Pathways for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

GO Terms for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

Sources for Intellectual Disability-Expressive Aphasia-Facial Dysmorphism...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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