Pontocerebellar hypoplasia type 1B

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.