Rare Disease Library

Pontocerebellar hypoplasia type 12

COASY-related pontocerebellar hypoplasia · PCH12

Isolated bilateral hemispheric cerebellar hypoplasia

Isolated cerebellar vermis hypoplasia

Isolated unilateral hemispheric cerebellar hypoplasia

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Pontocerebellar hypoplasia type 10

CLP1-related pontocerebellar hypoplasia · PCH10

Pontocerebellar hypoplasia type 11

Pontocerebellar hypoplasia due to TBC1D23 · PCH11

Pontocerebellar hypoplasia type 13

PCH13

Pontocerebellar hypoplasia type 14

PCH14

Pontocerebellar hypoplasia type 2

PCH2

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Pontocerebellar hypoplasia type 8

PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation

Pontocerebellar hypoplasia type 9

PCH9

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47