Search for a rare disease

* (*) mandatory field

Other search option(s)

13 Result(s)

ORPHA:411493  Pontocerebellar hypoplasia type 10

More information

Synonym(s) : CLP1-related pontocerebellar hypoplasia

ORPHA:166063  Pontocerebellar hypoplasia type 4

More information

Synonym(s) : Olivopontocerebellar hypoplasia ; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia

ORPHA:166068  Pontocerebellar hypoplasia type 5

More information

Synonym(s) : Fetal-onset olivopontocerebellar hypoplasia

ORPHA:284339  Pontocerebellar hypoplasia type 7

More information

Synonym(s) : Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

ORPHA:324569  Pontocerebellar hypoplasia type 8

More information

Synonym(s) : Pontocerebellar hypoplasia due to CHMP1A mutation

ORPHA:163937  X-linked intellectual disability, Najm type

More information

Synonym(s) : X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome