Urogenital features, which include
hypospadias/epispadias, micropenis, testicular atrophy, and a bifid
hypoplastic scrotum, are most likely caused by a primary testicular failure.
Cardiomyopathy is frequent (myofiber disarray), and cardiac dysfunction may
be rapidly progressive and severe in early infancy. Death usually results from cardiac
failure. Additional features include anodontia,
protruding lips,
decreased sweating, decreased body hair, and mental retardation.