This website provides information on patients with mutations in the NEUROG1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the NEUROG1 gene is a multisystem disorder characterized by hypotonia, ataxia, hearing loss, absent corneal reflex, bilateral agenesis of cranial nerve VIII and V, and abnormality of cochlea and auditory canals.

Not all individuals with a mutation in the NEUROG1 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 NEUROG1 gene.

Frenny Sheth, PhD, FRIGE’s Institute of Human Genetics, Ahmedabad, India, frenny.sheth@frige.co.in

Jhanvi Shah, MSc, FRIGE’s Institute of Human Genetics, Ahmedabad, India, jhanvi.shah@frige.co.in

Ketan Patel, MD, Speciality Homeopathic Clinic, Ahmedabad, India, drketanpatel@gmail.com

Deepika Jain, MD, Shishu Child Development and Early Intervention Centre, Ahmedabad, India, deepikajain1874@gmail.com

Jayesh Sheth, PhD, FRIGE’s Institute of Human Genetics, Ahmedabad, India, jayesh.sheth@frige.co.in

Aadhira Nair, MSc, FRIGE’s Institute of Human Genetics, Ahmedabad, India, aadhira.nair@frige.co.in

Harsh Sheth, PhD, FRIGE’s Institute of Human Genetics, Ahmedabad, India, riddhi.bhavsar@frige.co.in