TMEM165-CDG

od strane | мар 31, 2023 | Bolesti

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with...

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).