DYRK1A-related intellectual disability syndrome

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DYRK1A-related intellectual disability syndrome

Synonyms: DYRK1A syndrome

A rare genetic syndromic intellectual disability characterized by microcephaly global developmental delay mild to severe intellectual disability impairment of speech feeding problems behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears deep-set eyes a short nose with a broad nasal tip and retrognathia with a broad chin). Other more variable manifestations include seizures short stature ocular anomalies cardiac anomalies urogenital anomalies and musculoskeletal defects.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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DYRK1A-related intellectual disability syndrome?

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Advocacy Organizations

DYRK1A Syndrome US & International Association

To improve the quality of life for those affected by DYRK1A Syndrome. Through support, education, research and collaboration we are working to improve family life, daily living and clinical care for those with DYRK1A Syndrome. In doing so we also improve the lives of their caregivers and their families.

Clinical Trials

For a list of clinical trials in this disease area, please click here.