pontocerebellar hypoplasia type 8
A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
MONDO:0020135
pontocerebellar hypoplasia
is_a
CHMP1A non-syndromic pontocerebellar hypoplasia
exact
PCH8
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A
exact
pontocerebellar hypoplasia due to CHMP1A mutation
exact
pontocerebellar hypoplasia type 8
exact
pontocerebellar hypoplasia, type 8
related
SPBC13G1.12