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"

12 matching diseasesClear search ×

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

ORPHA:2148

Classic lissencephaly

Lissencephaly type 1

ORPHA:102009

Cobblestone lissencephaly

Lissencephaly type 2

ORPHA:51577

Lissencephaly

ORPHA:48471

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Lissencephaly type 3

ORPHA:102011

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

ORPHA:352694

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

ORPHA:352704

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

ORPHA:352699

OBSOLETE: Microlissencephaly type B

ORPHA:101052

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome

ORPHA:452

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

ORPHA:383