MCID: ATS348
MIFTS: 5

Autosomal Dominant Intellectual Disability 30

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Intellectual Disability 30

MalaCards integrated aliases for Autosomal Dominant Intellectual Disability 30:

Name: Autosomal Dominant Intellectual Disability 30 52

Classifications:



Summaries for Autosomal Dominant Intellectual Disability 30

NIH Rare Diseases : 52 Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay , speech delay, social difficulties and behavioral problems. Other symptoms and features may include aggressive behavior with mood swings in childhood, unusual facial features (wide spaced eyes (hypertelorism), drooping eyelids (ptosis ), and a wide mouth), autism spectrum disorder , poor muscle tone (hypotonia ), epilepsy , and deafness. One of the few patients described also had a happy disposition and uncoordinated gait (unsteady while walking), as well as eosinophilic esophagitis and multiple allergies. The condition is caused by mutations in the ZMYND11 gene . Inheritance seems to be autosomal dominant . The loss of this gene may also cause some of the features in the recently described 10p15.3 microdeletion syndrome . Treatment depends on the symptoms and features present and may include behavioral therapy, speech therapy, physical therapy , occupational therapy, and medication.

MalaCards based summary : Autosomal Dominant Intellectual Disability 30 Affiliated tissues include eye.

Symptoms & Phenotypes for Autosomal Dominant Intellectual Disability 30

Drugs & Therapeutics for Autosomal Dominant Intellectual Disability 30

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Intellectual Disability 30

Genetic Tests for Autosomal Dominant Intellectual Disability 30

Anatomical Context for Autosomal Dominant Intellectual Disability 30

MalaCards organs/tissues related to Autosomal Dominant Intellectual Disability 30:

40
Eye

Publications for Autosomal Dominant Intellectual Disability 30

Articles related to Autosomal Dominant Intellectual Disability 30:

# Title Authors PMID Year
1
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. 52
25281490 2014

Variations for Autosomal Dominant Intellectual Disability 30

Expression for Autosomal Dominant Intellectual Disability 30

Search GEO for disease gene expression data for Autosomal Dominant Intellectual Disability 30.

Pathways for Autosomal Dominant Intellectual Disability 30

GO Terms for Autosomal Dominant Intellectual Disability 30

Sources for Autosomal Dominant Intellectual Disability 30

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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