Occipital horn syndrome

Orpha code: 198OMIM code: 304150

Definicja

A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.

Disease data
Klasyfikacja

Disease

Kod ORPHA
198
Kod OMIM
304150
Kod ICD10
E83.0
Kod ICD11
-

No additional description.

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