Otospondylomegaepiphyseal dysplasia, autosomal recessive
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Sign InDescription
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
158