Features include always present findings: Inability to walk, Seizure, Low muscle tone (hypotonia), and Severe intellectual disability and others; and common findings: Strabismus, Delayed CNS myelination, Shrinkage of the cerebellum (cerebellar atrophy), and Agenesis of corpus callosum and others.

FCSK encodes fucose kinase (1,084 aa). Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides Highest expression in Brain Cerebellum (26.9 TPM) and Pituitary (26.5 TPM).

Congenital disorder of glycosylation with defective fucosylation 2 has limited evidence linking it to mutations in the FCSK gene on chromosome 16.

FCSK is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for FCSK is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for congenital disorder of glycosylation with defective fucosylation 2 has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 15 common features.

No clinical trials have been registered for congenital disorder of glycosylation with defective fucosylation 2.

58 publications have been identified in PubMed for congenital disorder of glycosylation with defective fucosylation 2. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (17%).