Otopalatodigital Syndrome

Otopalatodigital Syndrome

Introduction

Otopalatodigital syndrome spectrum disorders is an umbrella category that includes four related conditions.

Symptoms

Otopalatodigital syndrome spectrum disorder and is characterized by a skeletal dysplasia, mild intellectual disability, hearing loss.

Causes

Otopalatodigital Syndrome is caused by gain of function mutations in the FLNA gene.

Prevalence

Unknown

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Last Updated on 14 May 2021