GM2 gangliosidosis, AB variant

Orpha code: 309246OMIM code: 272750

Definition

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

Disease data
Classification

Disease

Synonyms
Hexosaminidase activator deficiency
Niedobór aktywatora heksozoaminidazy
ORPHA code
309246
OMIM code
272750
ICD10 code
E75.0
ICD11 code
-

No additional description.

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