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GTR Home > Conditions/Phenotypes > DYRK1A-related intellectual disability syndrome

DYRK1A-related intellectual disability syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: DYRK1A Syndrome
DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. The majority of affected individuals function in the moderate-to-severe range of intellectual disability; however, individuals with mild intellectual disability have also been reported. Other medical concerns relate to febrile seizures in infancy; the development of epilepsy with seizures of the atonic, absence, and generalized myoclonic types; short stature; and gastrointestinal problems. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bregje WM van Bon
Bradley P Coe
Bert BA de Vries
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Available tests

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYRK, DYRK1, HP86, MNB, MNBH, MRD7, DYRK1A
    Summary: dual specificity tyrosine phosphorylation regulated kinase 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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