MCID: ATS348
MIFTS: 6

Autosomal Dominant Intellectual Disability 30

Categories: Fetal 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 53

Classifications:



Summaries for Autosomal Dominant Intellectual Disability 30

NIH Rare Diseases : 53 Autosomal dominantintellectual 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:

41
Eye

Publications for Autosomal Dominant Intellectual Disability 30

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 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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