This disease is autosomal recessive. Mutations in the KIF7 gene are causative for<unk> . KIF7 is a 1343 amino acid protein with a kinesin motor, coiled coil, and Gli-binding domains. It is associated with ciliary motor function and is a key factor in the ciliary Hedgehog signaling pathway that is crucial during embryogenesis. Mutations in Hedgehog signaling components such as KIF7 and GLI3 may lead to ciliopathies and defects in the brain and other areas associated with<unk>  and related disorders. Mutations in the GLI3 gene may cause<unk>  or similar syndromes such as Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, or certain types of polydactyly. KIF7 interacts with Gli transcription factors, so mutations in the KIF7 gene may be upstream effectors of GLI3, resulting in similar symptoms.
Acrocallosal syndrome
Dorian Gray syndrome
Athetoid cerebral palsy
Skoptic syndrome
Robinow syndrome
Seaver Cassidy syndrome
Dyskinetic cerebral palsy
Ataxic cerebral palsy