Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Disease data Classification Etiological subtype Synonyms 21q22.13q22.2 microdeletion syndrome Del(21)(q22.13q22.2) Monosomia 21q22.13q22.2 Monosomia 21q22.13-q22.2 Zespół mikrodelecji 21q22.13q22.2 Zespół mikrodelecji 21q22.13-q22.2 Del(21)(q22.13q22.2) Monosomy 21q22.13q22.2 ORPHA code 268261 OMIM code - ICD10 code Q93.5 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