Welcome

This website provides information on patients with pathogenic variants in the INTS1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by pathogenic variants in the INTS1 gene is a multisystem disorder characterized by delayed expressive language, low muscle tone and gait abnormalities. Eye findings have included early onset of cataracts and facial anomalies have comprised wide-spaced eyes that can be deep-set, a wide nasal bridge and a short nose with a broad tip, low-set and anomalous ears, an abnormal dentition with a wide diastema, and downturned corners of the mouth. Other clinical findings have included pectus deformities, a short neck, overlapping toes and renal anomalies.
Not all individuals with pathogenic variants in the INTS1 gene have these features.

This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the INTS1 gene.

Anne Slavotinek, PhD, University of California, San Francisco, USA, anne.slavotinek@ucsf.edu