has material basis in germline mutation in EXOSC3 pontocerebellar hypoplasia type 1B https://github.com/monarch-initiative/mondo/issues/10353 https://www.malacards.org/card/pontocerebellar_hypoplasia_type_1b non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3 OMIM:614678 GARD:0015834 DOID:0060266 UMLS:C3553449 PCH1B Any pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene, which may include other brain anomalies (such as cerebellar atrophy or mega cisterna magna), hypotonia, ocular anomalies (including strabismus or vision loss), thrombotic microangiopathy, hypertension, proteinuria, and swollen or hyperechogenic kidneys. pontocerebellar hypoplasia type 1B MEDGEN:766363 EXOSC3-related pontocerebellar hypoplasia with or without thrombotic microangiopathy EXOSC3 non-syndromic pontocerebellar hypoplasia MONDO:0013853 pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia