Please sign in to follow a disease.
PPFIA3-related neurodevelopmental disorder
MONDO:1040014A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.
0 clinical trials for this condition and its sub-types, 0 tagged with PPFIA3-related neurodevelopmental disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.