Features include always present findings: Delayed speech and language development and Global developmental delay; and very common findings: Spasticity. 25 total HPO annotations.

DEGS1 encodes delta 4-desaturase, sphingolipid 1 (323 aa). Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). Catalyzes the equilibrium isomerization of retinols Highest expression in Skin Not Sun Exposed Suprapubic (560.6 TPM) and Skin Sun Exposed Lower leg (557.0 TPM).

Leukodystrophy, hypomyelinating, 18 is caused by mutations in the DEGS1 gene on chromosome 1.

The DEGS1 protein participates in DEGS1 dehydrogenates dihydroceramide and An atROL isomerase isomerises atROL to 11cROL pathways.

DEGS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for DEGS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 18 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 6 common features.

No clinical trials have been registered for leukodystrophy, hypomyelinating, 18.

14 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 18. Research spans Diagnostic / Biomarker (29%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (21%).