Features include always present findings: Seizure, Overactive reflexes (hyperreflexia), Microcephaly, and Hypoplasia of the corpus callosum and others; and common findings: Hypertonia, Hypsarrhythmia, Delayed CNS myelination, and Flexion contracture and others. 23 total HPO annotations.

EXOC8 encodes exocyst complex component 8 (725 aa). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane Highest expression in Cells EBV-transformed lymphocytes (12.2 TPM) and Cells Cultured fibroblasts (11.9 TPM).

Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy is associated with mutations in the EXOC8 gene on chromosome 1.

The EXOC8 protein participates in Insulin secretory granule docks at the plasma membrane pathway.

EXOC8 is classified as a druggable target with score 0.0.

Genetic testing for EXOC8 is available. Testing is considered confirmatory for diagnosis.

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

Phenotype severity distribution: 6 always present features, 16 common features.

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

22 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly, seizures, and brain atrophy. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (15%).