is a life-threatening inherited bone disease with dense, brittle bones and anemia.

is a rare autosomal recessive immune disorder causing severe mycobacterial infections.

is a rare autosomal recessive immune disorder causing recurrent mycobacterial infections.

causes inherited immune weakness, leading to severe mycobacterial and fungal infections.

is a rare inherited immune disorder causing vulnerability to mycobacterial infections.

is a rare autosomal recessive immune disorder causing recurrent mycobacterial infections.

is a rare autosomal recessive immune disorder causing recurrent mycobacterial infections.

is an inherited metabolic condition causing progressive cerebellar coordination and balance problems.

is a rare inherited disorder causing joint stiffness and webbing.

is a rare inherited condition causing multiple joint contractures present at birth.

is a rare inherited muscle disease causing weakness from myosin protein buildup.

is an autosomal recessive disorder causing abnormal fingernails and toenails.

is an autosomal recessive condition causing lifelong intellectual disability without additional features.

causes inner-ear (sensorineural) hearing loss without other features; autosomal recessive.

is bilateral sensorineural hearing loss without syndromic features; autosomal recessive.

is a rare autosomal recessive inner-ear (sensorineural) hearing loss without other features.

is an autosomal-recessive hearing loss, often present at birth, without other symptoms.

is an inherited (autosomal recessive) inner-ear (sensorineural) hearing loss.

is an autosomal recessive genetic hearing loss without other symptoms.

is a rare autosomal recessive sensorineural hearing loss without other features.

is a genetic, nonsyndromic sensorineural hearing loss inherited autosomal recessively.

is autosomal recessive sensorineural hearing loss without other medical features.

is an inherited, autosomal recessive hearing loss without other symptoms.

is an autosomal recessive, nonsyndromic bilateral inner-ear (sensorineural) hearing loss, often congenital.