is an autosomal recessive, nonsyndromic inner ear (sensorineural) hearing loss.

causes early-onset hearing loss without other features; autosomal recessive inheritance.

is autosomal recessive sensorineural hearing loss without other health problems.

causes autosomal recessive sensorineural hearing loss without other medical features.

is a genetic hearing loss without other symptoms (nonsyndromic), autosomal recessive.

is an autosomal recessive, non-syndromic hearing loss, often congenital.

is a genetic, isolated hearing loss, inherited recessively from carrier parents.

is inherited hearing loss without other features, due to recessive gene changes.

is a genetic hearing loss without other features, inherited recessively.

is an autosomal recessive bone disorder with limb shortening and facial differences.

is a rare autosomal recessive optic neuropathy causing progressive vision loss.

is a rare, severe inherited bone disease causing overly dense, fragile bones.

is a rare inherited bone disease causing dense, brittle bones and complications.

is a genetic (autosomal recessive) bone disorder causing dense, fragile bones.

is a rare inherited bone disease causing overly dense, fragile bones.

is a severe inherited bone disorder causing dense, brittle bones and complications.

is a rare genetic bone disorder causing dense, fragile bones and complications.

is a rare autosomal recessive bone disease causing abnormally dense, fragile bones.

is a rare inherited disorder causing thick palms/soles and baldness from birth.

is a rare inherited eye disorder affecting mid-peripheral vision and dark adaptation.

is a genetic childhood kidney disorder causing enlarged kidneys and liver problems.

is a rare inherited immune disorder weakening natural killer cell function.

is a genetic condition causing small head size (microcephaly) and developmental delays.

is an autosomal-recessive disorder causing progressive eye-movement weakness and ptosis (eyelid drooping).