/pontocerebellar hypoplasia type 3

pontocerebellar hypoplasia type 3

Rare Disease

MONDO:0011948

Also Known As

PCH with optic atrophyPCH without dyskinesiaPCH3PCLO non-syndromic pontocerebellar hypoplasiacerebellar atrophy with progressive microcephalyclamnon-syndromic pontocerebellar hypoplasia caused by mutation in PCLOPch with optic atrophypontocerebellar hypoplasia, type 3

Definition

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) 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 for PCH3.