ABSTRACT
Infantile failure to thrive, inability to aliment orally, developmental delay, hypotonia, inverted nipples, esotropia, and an unusual lipodystrophy in which a general decrease in subcutaneous fat is associated with accumulated large fat pads in unusual sites, such as above the buttocks; pericardial effusions, hepatic dysfunction and pontocerebellar hypoplasia; in childhood, ataxia and disequilibrium, retinitis pigmentosa and stroke-like episodes; teenage neuropathy, muscular atrophy and secondary skeletal deformities; adult hypogonadism; deficient or absent carbohydrate moieties of secretory glycoproteins, especially serum transferrin; and deficient activity of phosphomannomutase.
