congenital muscular dystrophy with intellectual disability and severe epilepsy
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
MONDO:0018276
muscular dystrophy-dystroglycanopathy
is_a
CDG syndrome type Iu
exact
CDG-Iu
exact
CDG1U
exact
CMD with intellectual disability and severe epilepsy
exact
DPM2-CDG
exact
carbohydrate deficient glycoprotein syndrome type Iu
exact
congenital disorder of glycosylation type 1u
exact
congenital disorder of glycosylation type Iu
exact
congenital disorder of glycosylation, type Iu
related
SPBC21B10.11