Preferred Label : Pontocerebellar hypoplasia type 3;
ICD-11 definition : Pontocerebellar hypoplasia type 3, also known as cerebellar atrophy with progressive
microcephaly, is a rare form of pontocerebellar hypoplasia with autosomal recessive
transmission characterized neonatally by hypotonia and impaired swallowing and from
infancy onward by seizures, optic atrophy and short stature, but none of the clinical
findings are specific.;
Origin ID : 378477807;
Currated CISMeF NLP mapping
Pontocerebellar hypoplasia type 3, also known as cerebellar atrophy with progressive
microcephaly, is a rare form of pontocerebellar hypoplasia with autosomal recessive
transmission characterized neonatally by hypotonia and impaired swallowing and from
infancy onward by seizures, optic atrophy and short stature, but none of the clinical
findings are specific.
