TRA2B-related neurodevelopmental disorder
MONDO:0700364Mondo
Findings
No curated finding names TRA2B-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by variation in the TRA2B gene. This disorder is characterised by intellectual disability and/or developmental delay, with delayed or absent speech and delayed motor development. Most patients present axial or global hypotonia in the neonatal to infancy period, and brain MRI abnormalities. Other phenotypic features commonly reported include infantile spasms, microcephaly, variable behavioral abnormalities, feeding difficulties, and short stature.
Definition from the Mondo Disease Ontology (MONDO:0700364), read 2026-09-29. CC BY 4.0.