Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Disease data Classification Malformation syndrome Synonyms PCH6 Fatal infantile encephalopathy with mitochondrial respiratory chain defects Śmiertelna niemowlęca encefalopatia z defektami mitochondrialnego łańcucha oddechowego PCH6 ORPHA code 166073 OMIM code 611523 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