TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy
Findings
No curated finding names TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder in which the cause of the disease is a variation in the TSEN2 gene. This condition is associated with intellectual disability, growth delay, hypotonia, motor delay, ataxia, vision issues, cardiac features (including left ventricular hypertrophy), and pulmonary complications (such as acute respiratory distress and edema). It is also linked to brain structural anomalies such as pontine and cerebellar hypoplasia, cortical atrophy, and dilated ventricles. Renal features include proteinuria, thrombotic microangiopathy, end-stage kidney disease, and high-severity hypertension.
Definition from the Mondo Disease Ontology (MONDO:1060216), read 2026-09-29. CC BY 4.0.