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"

21 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

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084

Cobblestone lissencephaly

Lissencephaly type 2

ORPHA:51577

Lissencephaly

ORPHA:48471

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

ORPHA:95232

Lissencephaly due to TUBA1A mutation

ORPHA:171680

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Lissencephaly type 3

ORPHA:102011

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016

Microlissencephaly

ORPHA:1083

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

ORPHA:531

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