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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"
4q25 proximal deletion syndrome
Proximal del(4)(q25) · Proximal monosomy 4q25
4q21 microdeletion syndrome
Del(4)(q21) · Monosomy 4q21
Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2) · Proximal monosomy 16p11.2