Developmental delay, seizures, behavioural difficulties and hypotonia are presentations of GPIBD17. Some individuals affected show autism spectrum disorder, apraxia, language delay, dysarthria, feeding difficulties, facial dysmorphism, microcephaly, strabismus, musculoskeletal anomalies, hirsutism, clinodactyly and cutaneous abnormalities. Delayed myelinisation can be seen on neuroimaging of the brain of some individuals.
PIGH