Features include always present findings: Aplasia cutis congenita and Aplasia of distal finger phalanx; and common findings: Alopecia, Seizure, Hydrocephalus, and Axial hypotonia and others. 37 total HPO annotations.

DOCK6 encodes dedicator of cytokinesis 6 (2,047 aa). Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth Highest expression in Lung (85.2 TPM) and Thyroid (66.5 TPM).

Adams-Oliver syndrome 2 is associated with mutations in the DOCK6 gene on chromosome 19.

The DOCK6 protein participates in DOCKs bind to RhoGEFs, CDC42 GEFs activate CDC42, and RAC1 GEFs activate RAC1 pathways.

DOCK6 is classified as a druggable target with score 0.0.

Genetic testing for DOCK6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Adams-Oliver syndrome 2 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 13 common features.

No clinical trials have been registered for Adams-Oliver syndrome 2.

12 publications have been identified in PubMed for Adams-Oliver syndrome 2. Research spans Case Report / Case Series (58%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).