Ogden syndrome

info · Syndrome

A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.

Signs and symptoms

Pulmonary artery stenosis
Global developmental delay
Microvesicular hepatic steatosis
Cerebral atrophy
Macrotia
Feeding difficulties
Minimal subcutaneous fat
Wide anterior fontanel
Cryptorchidism
Short stature

Also known as: N-alpha-acetyltransferase; N-terminal acetyltransferase deficiency; OGDNS; X-linked Malformation and Infantile Lethality Syndrome