has material basis in germline mutation in CHMP1A pontocerebellar hypoplasia type 8 https://www.malacards.org/card/pontocerebellar_hypoplasia_type_8_2 DOID:0060277 GARD:0017488 UMLS:C3554209 pontocerebellar hypoplasia due to CHMP1A mutation non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A MONDO:0013990 pontocerebellar hypoplasia type 8 OMIM:614961 SCTID:718611007 CHMP1A non-syndromic pontocerebellar hypoplasia MEDGEN:767123 PCH8 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. Orphanet:324569 pontocerebellar hypoplasia