ATXN7L3-related developmental delay, hypotonia and facial dysmorphism
MONDO:0700355Mondo
Findings
No curated finding names ATXN7L3-related developmental delay, hypotonia and facial dysmorphism 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 ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities
Definition from the Mondo Disease Ontology (MONDO:0700355), read 2026-09-29. CC BY 4.0.