Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. Disease data Classification Malformation syndrome Synonyms Ring 14 Ring chromosome 14 ORPHA code 1440 OMIM code 616606 ICD10 code Q93.2 ICD11 code - *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