Features include always present findings: Global developmental delay; and common findings: Cerebellar hypoplasia. 16 total HPO annotations.

EXOC7 encodes exocyst complex component 7 (735 aa). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Highest expression in Thyroid (85.2 TPM) and Cervix Endocervix (80.6 TPM).

Neurodevelopmental disorder with seizures and brain atrophy is associated with mutations in the EXOC7 gene on chromosome 17.

The EXOC7 protein participates in Insulin secretory granule docks at the plasma membrane pathway.

EXOC7 is classified as a druggable target with score 0.0.

Genetic testing for EXOC7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with seizures and brain atrophy has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for neurodevelopmental disorder with seizures and brain atrophy.

66 publications have been identified in PubMed for neurodevelopmental disorder with seizures and brain atrophy. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (11%).