Features include always present findings: Difficulty swallowing (dysphagia), Feeding difficulties, Depressed nasal bridge, and Camptodactyly and others; and very common findings: Full cheeks. 14 total HPO annotations.

KLHL7 encodes kelch like family member 7 (586 aa). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Highest expression in Testis (28.9 TPM) and Brain Cerebellar Hemisphere (19.7 TPM).

PERCHING syndrome is associated with mutations in the KLHL7 gene on chromosome 7.

KLHL7 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for KLHL7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 1 very common feature, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for PERCHING syndrome.

57 publications have been identified in PubMed for PERCHING syndrome. Research spans Other (80%), Epidemiology / Natural History (13%), and Review / Meta-Analysis (7%).