Disease association ontology term - MONDO:0013853 - pontocerebellar hypoplasia type 1B
Term summary
- ID
- MONDO:0013853
- Name
- pontocerebellar hypoplasia type 1B
- Ontology or CV name
- Disease association
- Definition
- 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.
