Preferred Label : Pontocerebellar hypoplasia type 4;
ICD-11 definition : Pontocerebellar hypoplasia type 4 is a very rare form of pontocerebellar hypoplasia
characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia,
severe clonus, primary hypoventilation leading to an early postnatal death.;
Origin ID : 447667859;
Currated CISMeF NLP mapping
Pontocerebellar hypoplasia type 4 is a very rare form of pontocerebellar hypoplasia
characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia,
severe clonus, primary hypoventilation leading to an early postnatal death.
