MCID: DYR002
MIFTS: 8

Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dyrk1a-Related Intellectual Disability Syndrome Due to...

MalaCards integrated aliases for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion:

Name: Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 59
21q22.13-Q22.2 Microdeletion Syndrome 59
21q22.13q22.2 Microdeletion Syndrome 59
Monosomy 21q22.13-Q22.2 59
Monosomy 21q22.13q22.2 59
Del(21)(q22.13q22.2) 59

Characteristics:

Orphanet epidemiological data:

59
dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA268261
ICD10 via Orphanet 34 Q93.5

Summaries for Dyrk1a-Related Intellectual Disability Syndrome Due to...

MalaCards based summary : Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion, is also known as 21q22.13-q22.2 microdeletion syndrome. An important gene associated with Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A).

Related Diseases for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Symptoms & Phenotypes for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Drugs & Therapeutics for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Search Clinical Trials , NIH Clinical Center for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion

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Variations for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Expression for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Search GEO for disease gene expression data for Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion.

Pathways for Dyrk1a-Related Intellectual Disability Syndrome Due to...

GO Terms for Dyrk1a-Related Intellectual Disability Syndrome Due to...

Sources for Dyrk1a-Related Intellectual Disability Syndrome Due to...

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10 dbSNP
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17 ExPASy
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31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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