Features include always present findings: Profound intellectual disability, Failure to thrive, Corneal erosion, and Axial hypotonia and others; and common findings: Stridor, Seizure, Enlarged liver (hepatomegaly), and Gastroesophageal reflux and others. 29 total HPO annotations.

DHRSX encodes dehydrogenase/reductase X-linked (330 aa). Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis.

Congenital disorder of glycosylation, type 1DD is associated with mutations in the DHRSX gene on chromosome X.

The DHRSX protein participates in DHRSX reduces dolichal to dolichol and DHRSX oxidizes polyprenol to polyprenal pathways.

DHRSX is classified as a druggable target (Druggable Genome and Short Chain Dehydrogenase Reductase categories) with score 0.0.

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

Phenotype severity distribution: 8 always present features, 12 common features.