Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Disease data Classification Malformation syndrome Synonyms Interstycjalna delecja 10q Nietelomerowa monosomia 10q Non-telomeric monosomy 10q Nietelomerowa delecja 10q Non-distal monosomy 10q ORPHA code 1581 OMIM code - ICD10 code Q93.5 ICD11 code LD44.A0 *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