pontocerebellar hypoplasia type 3
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.
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH with optic atrophy
exact
PCH without dyskinesia
exact
PCH3
exact
PCLO non-syndromic pontocerebellar hypoplasia
exact
cerebellar atrophy with progressive microcephaly
exact
clam
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO
exact
pontocerebellar hypoplasia, type 3
related