alacrima, achalasia, and impaired intellectual development syndrome

A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on ch

A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.

Signs and symptoms

• Generalized hypotonia
• Esophageal stenosis
• Downturned corners of mouth
• Exodeviation
• Delayed speech and language development
• Global developmental delay
• Prominent nose
• Short philtrum
• Horizontal nystagmus
• Neonatal respiratory distress

Also known as: AAMR; alacrima, achalasia, and mental retardation syndrome