Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing Disease data Classification Malformation syndrome Synonyms Norman disease Choroba Normana PCH1 PCH1 ORPHA code 2254 OMIM code 616081 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