Rare Disease Library

Congenital disorder of glycosylation with neurological involvement

CDG with neurological involvement

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Hematological disorder with renal involvement

Infantile inflammatory bowel disease with neurological involvement

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

Rare neurologic disease with psychiatric involvement