Spondyloepiphyseal dysplasia, MacDermot type

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Spondyloepiphyseal dysplasia, MacDermot type

Synonyms: Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome | Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome

Spondyloepiphyseal dysplasia (SED) MacDermot type is characterized by short stature femoral epiphyseal dysplasia mild vertebral changes and sensorineural deafness.

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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Spondyloepiphyseal dysplasia, MacDermot type?

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