Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels o...

Phelan-McDermid syndrome is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 22 is missing (deleted or monosomic). Although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally thought ...