Preferred Label : Pontocerebellar hypoplasia type 2;
ICD-11 definition : Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia
characterized by neonatal onset and a lack of voluntary motor development and later
progressive microencephaly, generalized clonus, development of chorea and spasticity.
The majority of patients will not reach puberty.;
Origin ID : 1158649247;
Currated CISMeF NLP mapping
Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia
characterized by neonatal onset and a lack of voluntary motor development and later
progressive microencephaly, generalized clonus, development of chorea and spasticity.
The majority of patients will not reach puberty.
