Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Disease data Classification Malformation syndrome Synonyms Del(19)(p13.13) Del(19)(p13.13) Monosomia 19p13.13 Monosomy 19p13.13 ORPHA code 357001 OMIM code 613638 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