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.
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