Features include always present findings: Low posterior hairline, Bulbous nose, Microcephaly, and Ptosis and others; and common findings: Narrow forehead, Long philtrum, Short stature, and Generalized hypotonia and others. 24 total HPO annotations.

MYO18B encodes myosin XVIIIB (2,567 aa). May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. Highest expression in Muscle Skeletal (112.8 TPM) and Heart Left Ventricle (31.6 TPM).

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome is caused by mutations in the MYO18B gene on chromosome 22.

MYO18B is classified as a druggable target with score 0.0.

Genetic testing for MYO18B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 11 common features.

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

No clinical trials have been registered for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome.

40 publications have been identified in PubMed for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome. Research spans Case Report / Case Series (65%), Review / Meta-Analysis (15%), and Diagnostic / Biomarker (13%).