Ring X

Molecular Etiology

 * Often in mosaic form in Turner Syndrome = 45,X/46,X,r(X)
 * XIST = role in X-inactivation; phenotype determined by presence or absence

Associated Birth Defects

 * Gastrointestinal Anomalies
 * Cardiac Defects

Facial Features

 * dysmorphic features

Extremities

 * syndactyly
 * oligodactyly

Neurological

 * Intellectual Disability
 * Developmental Delay
 * Seizures