Features include always present findings: Epileptic encephalopathy; and very common findings: Global developmental delay. 16 total HPO annotations.

DHDDS encodes dehydrodolichyl diphosphate synthase subunit (333 aa). With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Highest expression in Brain Cerebellum (95.1 TPM) and Brain Cerebellar Hemisphere (91.4 TPM).

Developmental delay and seizures with or without movement abnormalities is associated with mutations in the DHDDS gene on chromosome 1.

The DHDDS protein participates in Defective DHDDS causes RP59, Defective DHDDS does not elongate E,E-FPP, and DHDDS:NUS1 elongates E,E-FPP with (n)IPPP to form pPPP pathways.

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

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

Biomarker and diagnostic research for developmental delay and seizures with or without movement abnormalities has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

No clinical trials have been registered for developmental delay and seizures with or without movement abnormalities.

206 publications have been identified in PubMed for developmental delay and seizures with or without movement abnormalities. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (16%), and Case Report / Case Series (14%).