Medicine & Life Sciences
Congenital Disorders of Glycosylation
100%
Glycosylation
46%
Mutation
28%
Phenotype
26%
Cutis Laxa
24%
Mitochondrial Diseases
20%
Intellectual Disability
19%
Cutis Laxa, Autosomal Recessive, Type I
18%
Genes
16%
Child
15%
Muscle Hypotonia
15%
Polysaccharides
13%
Glycogen Storage Disease XIV
12%
Transferrin
12%
Oxidative Phosphorylation
12%
Fibroblasts
12%
Galactose
11%
Inborn Errors Metabolism
10%
3-Methylglutaconic Aciduria
10%
Neurodevelopmental Disorders
10%
Phosphoglucomutase
9%
phosphomannomutase
9%
Congenital disorder of glycosylation type II
9%
Undiagnosed Diseases
8%
Microcephaly
8%
Exome
8%
Seizures
8%
Muscles
8%
Brain Diseases
7%
Congenital disorder of glycosylation type 1A
7%
Enzymes
7%
Epilepsy
7%
Leigh Disease
6%
Methylmalonic acidemia
6%
Ataxia
6%
Proteins
6%
Muscular Diseases
6%
Brain
5%
Therapeutics
5%
Dolichols
5%
Deafness
5%
Skin
5%