Clinical signs include hypotonia, abnormal gait,
expressionless face, cataract, amyotrophy/muscle agenesis, and
small/atrophic testicles, which may result in late puberty or hypogonadism
as a late sign. Less frequent signs include ptosis, kyphosis,
hyperextensible joints, abnormally placed nipples, squinting/paresis of ocular
muscles, and increased carrying angle of the elbows.