Rare Disease Library

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"

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Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

ORPHA:352403