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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"
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Biemond syndrome
Tremor-nystagmus-duodenal ulcer syndrome
Neuhauser-Daly-Magnelli syndrome