Features include always present findings: Enlarged joints, Flattened epiphysis, Hypertelorism, and Molar tooth sign on MRI and others; and very common findings: Global developmental delay and Triangular mouth. 28 total HPO annotations.

KIF7 encodes kinesin family member 7 (1,343 aa). Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Highest expression in Cervix Ectocervix (23.0 TPM) and Artery Aorta (21.6 TPM).

Multiple epiphyseal dysplasia, Al-Gazali type is associated with mutations in the KIF7 gene on chromosome 15.

The KIF7 protein participates in GLI:SUFU translocates to the ciliary tip in response to Hh signaling pathway.

KIF7 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for KIF7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for multiple epiphyseal dysplasia, Al-Gazali type has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 2 very common features, 2 common features.

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

No clinical trials have been registered for multiple epiphyseal dysplasia, Al-Gazali type.

101 publications have been identified in PubMed for multiple epiphyseal dysplasia, Al-Gazali type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (6%).