has material basis in germline mutation in TSEN54 pontocerebellar hypoplasia type 4 https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 https://www.malacards.org/card/pontocerebellar_hypoplasia_type_4_2 Orphanet:166063 fatal infantile encephalopathy with olivopontocerebellar hypoplasia GARD:0000343 MEDGEN:384027 PCH4 icd11.foundation:447667859 MONDO:0009166 pontocerebellar hypoplasia, type 4 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. olivopontocerebellar hypoplasia DOID:0060273 MESH:C536716 encephalopathy fatal infantile with olivopontocerebellar hypoplasia UMLS:C1856974 OMIM:225753 SCTID:718608006 pontocerebellar hypoplasia