Alacrima, Achalasia, and Impaired Intellectual Development Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the GMPPA gene, encoding mannose-1-phosphate guanyltransferase alpha. It is characterized by alacrima, achalasia, and impaired intellectual development.

**Synonyms:** - AAMR