Features include always present findings: Absent speech, EEG abnormality, Global developmental delay, and Sleep disturbance and others; and common findings: Bilateral tonic-clonic seizure and Status epilepticus.

DEAF1 encodes DEAF1 transcription factor (565 aa). Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Highest expression in Brain Anterior cingulate cortex BA24 (98.3 TPM) and Brain Cerebellar Hemisphere (95.9 TPM).

Intellectual disability-epilepsy-extrapyramidal syndrome is associated with mutations in the DEAF1 gene on chromosome 11.

DEAF1 is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 0.0.

Genetic testing for DEAF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability-epilepsy-extrapyramidal syndrome has been reported in the published literature.

Phenotype severity distribution: 14 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for intellectual disability-epilepsy-extrapyramidal syndrome.

329 publications have been identified in PubMed for intellectual disability-epilepsy-extrapyramidal syndrome. Kisho has analyzed 149 by research type. Research spans Review / Meta-Analysis (30%), Basic Science / Preclinical (28%), and Case Report / Case Series (23%).