Preferred Label : Pontocerebellar hypoplasia type 5;
ICD-11 definition : Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia
with prenatal onset. It is characterized by fetal onset of clonus or seizures-like
activity persisting in infancy and microencephaly leading to early postnatal death.
There is significant overlap both in phenotype and in genotype between pontocerebellar
hypoplasia types 4 and 5.;
Origin ID : 1962551792;
Currated CISMeF NLP mapping
Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia
with prenatal onset. It is characterized by fetal onset of clonus or seizures-like
activity persisting in infancy and microencephaly leading to early postnatal death.
There is significant overlap both in phenotype and in genotype between pontocerebellar
hypoplasia types 4 and 5.
