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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"
Glycine encephalopathy
NKA · Non-ketotic hyperglycinemia
Atypical glycine encephalopathy
Atypical NKA · Atypical non-ketotic hyperglycinemia
Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome
Infantile glycine encephalopathy
Infantile NKH · Infantile non-ketotic hyperglycinemia
Isolated glycerol kinase deficiency
Hyperglycerolemia
Neonatal glycine encephalopathy
Classic glycine encephalopathy · Neonatal NKH
Propionic acidemia
Ketotic hyperglycinemia · Propionic aciduria