Keyphrases
Mosaicism
100%
Congenital Disorders of Glycosylation
100%
SLC35A2
100%
UDP-galactose Transporter
100%
SLC35A2-CDG
60%
Transferrin Isoforms
40%
Seizure
20%
Growth Hormone
20%
Test Evaluation
20%
Patient Report
20%
Whole Exome Sequencing
20%
Heterozygous mutation
20%
Patterned Growth
20%
Growth Hormone Stimulation Test
20%
Growth Pattern
20%
Genetic Defects
20%
Hemizygous
20%
Neurodevelopmental Evaluation
20%
Growth Retardation
20%
Developmental Delay
20%
Failure to Thrive
20%
Reduced Growth
20%
Missense Variants
20%
Lipooligosaccharide
20%
X-linked Genes
20%
Cerebral Atrophy
20%
N-linked Glycans
20%
Glycan Synthesis
20%
Neurodevelopmental Status
20%
Central Hypotonia
20%
Biochemistry, Genetics and Molecular Biology
Mosaicism
100%
Congenital Disorder of Glycosylation
100%
Uridine Diphosphate Galactose
100%
Isoform
40%
Polysaccharides
40%
Bovine Somatotropin
40%
Transferrin
40%
Growth Hormone
40%
Genetics
20%
Lipid
20%
Exome Sequencing
20%
Missense
20%
Precursor
20%
Infancy
20%
X Chromosomal Inheritance
20%
Oligosaccharide
20%