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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"
Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
Classic lissencephaly
Lissencephaly type 1
Cobblestone lissencephaly
Lissencephaly type 2
Lissencephaly
Lissencephaly type 3