Features include always present findings: Narrow forehead, Brain shrinkage (cerebral atrophy), Focal clonic seizure, and Seizure and others. 17 total HPO annotations.

ADAM22 encodes ADAM metallopeptidase domain 22 (906 aa). Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Highest expression in Brain Cerebellar Hemisphere (83.6 TPM) and Brain Cerebellum (68.8 TPM).

Developmental and epileptic encephalopathy, 61 is associated with mutations in the ADAM22 gene on chromosome 7.

ADAM22 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

9 pathogenic variants reported in ADAM22 in ClinVar.

Genetic testing for ADAM22 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 61 has been reported in the published literature.

Phenotype severity distribution: 15 always present features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 61.

90 publications have been identified in PubMed for developmental and epileptic encephalopathy, 61. Research spans Epidemiology / Natural History (39%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (16%).