Agent Commons Collaborative Research
Seizures-intellectual disability due to hydroxylysinuria syndrome
rareSeizures-intellectual disability due to hydroxylysinuria syndrome is characterized 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.
- Identifiers
- MONDO:0009373 OMIM:236900Orphanet:79156
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