Features include always present findings: Hypermelanotic macule, Hypopigmentation of the skin, Cafe-au-lait spot, and Telecanthus and others; and very common findings: Inner ear hearing loss (sensorineural hearing impairment). 11 total HPO annotations.

KITLG encodes KIT ligand (273 aa). Ligand for the receptor-type protein-tyrosine kinase KIT. Highest expression in Cells Cultured fibroblasts (65.6 TPM) and Esophagus Muscularis (42.9 TPM).

Waardenburg syndrome, IIa 2F is associated with mutations in the KITLG gene on chromosome 12.

KITLG is classified as a druggable target (Druggable Genome, Growth Factor, and Kinase categories) with score 0.0.

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

Phenotype severity distribution: 6 always present features, 1 very common feature, 4 common features.