Autosomal recessive osteopetrosis 2 is a rare, inherited bone disease where bones become very dense and “stone-like.” The density looks strong on x-rays, but ...

TCIRG1-related malignant osteopetrosis is a severe, inherited bone disease that usually starts in the first months of life. In this condition, bone-eating ...

TCIRG1-related autosomal recessive malignant osteopetrosis is a severe genetic bone disease that starts in infancy. In this disease, special bone-eating cells ...

Autosomal recessive osteopetrosis 1 (ARO1) is a very rare genetic bone disease that starts in infancy. In this condition, bone-eating cells (called ...

Infantile malignant osteopetrosis is a rare, severe bone disease that starts in early infancy. The bones become too dense and heavy because cells called ...

Autosomal recessive malignant osteopetrosis is a very serious, inherited bone disease that starts in infancy. In this disease, the body makes bone that is too ...

Autosomal recessive osteopetrosis is a rare genetic bone disease. The body makes too much bone and does not remove old bone well. This happens because ...

TMEM126A-related optic atrophy (with or without extra-ocular features) is a rare inherited eye and nerve condition. It mainly damages the optic nerves—the ...

Autosomal recessive optic atrophy, OPA7 type, is a rare inherited eye and nerve condition that mainly damages the optic nerves—the “cables” that carry visual ...

Micromelic dysplasia–dislocation of radius syndrome is a genetic bone-growth disorder. Babies are born with very short arms and legs and with abnormal shaping ...

Micromelic dysplasia–dislocation of radius syndrome is a rare genetic bone growth disorder. “Micromelic” means the arms and legs are short from birth. ...

Autosomal recessive omodysplasia (OMOD1) is a very rare genetic skeletal disorder. Babies are born with short limbs (particularly the upper arms and thighs), a ...

OTOF-mediated auditory neuropathy is a genetic hearing disorder where the ear can detect sound, but the sound signal is not passed correctly from the inner ...

Autosomal Recessive Nonsyndromic Hearing Loss 9 (ARNSHL9) is a genetic type of hearing loss caused by changes (variants) in a gene called OTOF. This gene makes ...

Autosomal recessive nonsyndromic hearing loss 51 is a rare, inherited form of sensorineural hearing loss that affects hearing only (no other body systems). ...

Autosomal recessive neurosensory deafness with hearing loss 47 (DFNB47) is a rare, inherited form of non-syndromic sensorineural hearing loss. “Autosomal ...

Autosomal recessive nonsyndromic hearing loss 47 is a rare, inherited kind of permanent hearing loss. “Autosomal recessive” means a child must inherit the ...

GJB6-related DFNB1 nonsyndromic hearing loss is a type of inherited, inner-ear (sensorineural) hearing loss caused by harmful changes in the GJB6 gene. GJB6 ...

GJB2-related autosomal recessive nonsyndromic hearing loss is a genetic condition where a child is born with hearing loss because both copies of a single gene, ...

GJB2 and GJB6 autosomal recessive digenic deafness are genes that make tiny “gap junction” channel proteins, connexin-26 and connexin-30. These channels let ...