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"

11 matching diseasesClear search ×

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

ORPHA:166063

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

ORPHA:708171

Fatal infantile encephalopathy-pulmonary hypertension syndrome

ORPHA:293838

Lissencephaly with cerebellar hypoplasia

LCH

ORPHA:86823

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

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

ORPHA:166068