16p13.2 microdeletion syndrome

Orpha code: 500055OMIM code: 616863

Definicja

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(16)(p13.2)
Del(16)(p13.2)
Monosomia 16p13.2
Monosomy 16p13.2
Kod ORPHA
500055
Kod OMIM
616863
Kod ICD10
-
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl