Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare genetic neuro-ophthalmological syndrome characterized by post-natal progressive microcephaly and early-onset seizures associated with delayed global development bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
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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Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.