MAN1B1-CDG

od strane | мар 31, 2023 | Bolesti

MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral...

Carnosinemia

od strane | мар 31, 2023 | Bolesti

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

DPM3-CDG

od strane | мар 31, 2023 | Bolesti

DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

Tetanus

od strane | мар 31, 2023 | Bolesti

Tetanus is an infectious disease caused by the anaerobic bacterium Clostridium tetani and characterized by spasms and contractions of the skeletal muscles.

COG7-CDG

od strane | мар 31, 2023 | Bolesti

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died...