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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"
Bainbridge-Ropers syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
CAMFAK syndrome
CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome
Hypotonia-failure to thrive-microcephaly syndrome
LTC4 synthase deficiency · Leukotriene C4 synthase deficiency