6q16 microdeletion syndrome

Orpha code: 171829OMIM code:

Definition

A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

Disease data
Classification

Disease

Synonyms
Del(6)(q16)
Del(6)(q16)
Monosomia 6q16
Zespół podobny do zespołu Pradera i Williego spowodowany delecją 6q16
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
ORPHA code
171829
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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