MCID: INT300
MIFTS: 7

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 59
Intellectual Disability-Loss of Expressive Language-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-expressive aphasia-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA436151
ICD10 via Orphanet 34 Q87.0

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

MalaCards based summary : Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome, also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome, is related to trehalase deficiency. An important gene associated with Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome is ZMYND11 (Zinc Finger MYND-Type Containing 11).

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

Diseases related to Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trehalase deficiency 9.0 SETBP1 ZMYND11

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

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...

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 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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