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"

4 matching diseasesClear search ×

Non-syndromic cerebral malformation due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

ORPHA:163209

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633