Preferred Label : Pontocerebellar hypoplasia type 6;
ICD-11 definition : Pontocerebellar hypoplasia type 6 is a rare form of pontocerebellar hypoplasia characterized
clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy
by progressive microencephaly, spasticity and lactic acidosis.;
Origin ID : 1612653027;
Currated CISMeF NLP mapping
Pontocerebellar hypoplasia type 6 is a rare form of pontocerebellar hypoplasia characterized
clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy
by progressive microencephaly, spasticity and lactic acidosis.
