Partington-Syndrom (PRTS)

Epileptic encephalopathy, Infantile spasms, Hypsarrhythmia, Seizure, Global developmental delay, Severe global developmental delay, Intellectual disability, severe, Agenesis of corpus callosum, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Generalized hypotonia, Spasticity, Dystonia, Developmental regression, Microcephaly, Ambiguous genitalia, Cryptorchidism, X-linked recessive inheritance, Congenital onset