Features include always present findings: EEG abnormality, Seizure, Ataxia, and Epileptic encephalopathy and others; and very common findings: Tremor. 17 total HPO annotations.

Age of onset: infancy.

NUS1 encodes NUS1 dehydrodolichyl diphosphate synthase subunit (293 aa). With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Highest expression in Cells EBV-transformed lymphocytes (39.3 TPM) and Cells Cultured fibroblasts (32.7 TPM).

Intellectual disability, autosomal dominant 55, with seizures is associated with mutations in the NUS1 gene on chromosome 6.

The NUS1 protein participates in DHDDS:NUS1 elongates E,E-FPP with (n)IPPP to form pPPP pathway.

NUS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for NUS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 55, with seizures has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 10 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 55, with seizures.

15 publications have been identified in PubMed for intellectual disability, autosomal dominant 55, with seizures. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (13%).