X-linked Alport syndrome-diffuse leiomyomatosis
Synonyms: Xq22.3 microdeletion syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal respiratory and female genital tracts and clinically manifests with dysphagia dyspnea cough stridor postprandial vomiting retrosternal or epigastric pain recurrent pneumonia and clitoral hypertrophy in females.
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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X-linked Alport syndrome-diffuse leiomyomatosis?
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