spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
exact