Catalog

Seizures - intellectual deficit due to hydroxylysinuria

No MMS code

Link to WHO Definition

Seizures - intellectual deficit due to hydroxylysinuria – http://id.who.int/icd/entity/1235182906

This syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.