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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures
Pyridoxine-dependent-developmental and epileptic encephalopathy
Antiquitin deficiency · Vitamin B6-dependent seizures