Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Disease data Classification Malformation syndrome Synonyms PCH2 PCH2 ORPHA code 2524 OMIM code 617026 ICD10 code Q04.3 ICD11 code LD20.01 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl