Spondyloepiphyseal dysplasia, MacDermot type

Orpha code: 163668OMIM code: 184000

Definicja

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

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness
Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
Kod ORPHA
163668
Kod OMIM
184000
Kod ICD10
Q77.7
Kod ICD11
LD24.3

No additional description.

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