Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome is a genetic, mitochondria-related disorder where the optic nerves slowly waste away (optic atrophy), ...

Optic atrophy type 8 (OPA8) is a hereditary eye and nerve condition where the optic nerves slowly waste away, causing vision to decline—usually starting in ...

Autosomal Dominant Optic Atrophy Plus (ADOA+) is a rare, inherited condition in which the optic nerves (the “cables” that carry visual signals from the eyes to ...

Autosomal dominant optic atrophy and peripheral neuropathy syndrome is a rare genetic condition where the optic nerves (the cables that carry visual signals ...

Autosomal dominant optic atrophy with peripheral neuropathy (ADOA-PN / “DOA+ with neuropathy”) is a rare genetic disorder. It mostly damages the optic nerve, ...

Omodysplasia is a very rare genetic bone growth disorder. It mainly affects the long bones of the arms and sometimes the legs. People have short upper limbs, ...

Autosomal dominant omodysplasia is a very rare genetic bone condition. “Omo” refers to the shoulder; “dysplasia” means an abnormal way that tissues grow. In ...

Autosomal dominant nonsyndromic hearing loss 53 (DFNA53) is a rare inherited form of sensorineural hearing loss that runs in families in an autosomal dominant ...

Autosomal dominant nonsyndromic hearing loss 3A (DFNA3A) is a genetic type of hearing loss passed in families where a single changed copy of a hearing gene is ...

Autosomal dominant nonsyndromic hearing loss 2A—often shortened to DFNA2A—is a genetic form of sensorineural hearing loss (inner-ear hearing loss) caused by ...

Autosomal dominant nonsyndromic hearing loss 24—often shortened to DFNA24—is a rare, inherited type of hearing loss. “Autosomal dominant” means a person needs ...

Nonsyndromic Hearing Loss and Deafness, DFNA23 is a type of inherited, autosomal dominant, nonsyndromic hearing loss. “Autosomal dominant” means a single ...

Autosomal Dominant Non-syndromic Hearing Loss and Deafness Linked to MYO6 (DFNA22) is an inherited, progressive, sensorineural hearing loss that runs in ...

Autosomal dominant nonsyndromic hearing loss 22—short name DFNA22—is a hereditary type of sensorineural hearing loss that usually starts after a child learns ...

Autosomal dominant nonsyndromic hearing loss 17 (DFNA17) is a genetic type of permanent sensorineural hearing loss that usually starts after language is ...

Autosomal dominant non-syndromic intellectual disability (AD-NSID) is a group of genetic conditions where a person has lifelong difficulties with learning, ...