TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy
exact