Autosomal recessive nonsyndromic hearing loss 1A is a genetic type of hearing loss that affects the inner ear, especially a part called the cochlea. “Autosomal recessive” means a child must inherit a ...
Autosomal dominant omodysplasia is a very rare genetic bone condition. “Omo” refers to the shoulder; “dysplasia” means an abnormal way that tissues grow. In this condition, the upper arms (humeri) ...
Autosomal dominant nonsyndromic hearing loss 53 (DFNA53) is a rare inherited form of sensorineural hearing loss that runs in families in an autosomal dominant pattern. “Nonsyndromic” means the main ...
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 enough to cause hearing loss. Most ...
Autosomal dominant nonsyndromic hearing loss 2A—often shortened to DFNA2A—is a genetic form of sensorineural hearing loss (inner-ear hearing loss) caused by disease-causing changes (variants) in a ...
Autosomal dominant nonsyndromic hearing loss 24—often shortened to DFNA24—is a rare, inherited type of hearing loss. “Autosomal dominant” means a person needs just one changed copy of the gene to ...
Nonsyndromic Hearing Loss and Deafness, DFNA23 is a type of inherited, autosomal dominant, nonsyndromic hearing loss. “Autosomal dominant” means a single altered gene copy—from either parent—can ...
Autosomal Dominant Non-syndromic Hearing Loss and Deafness Linked to MYO6 (DFNA22) is an inherited, progressive, sensorineural hearing loss that runs in families in an autosomal-dominant pattern. ...
Autosomal dominant nonsyndromic hearing loss 17 (DFNA17) is a genetic type of permanent sensorineural hearing loss that usually starts after language is learned (post-lingual), tends to begin in the ...
Partial epilepsy with auditory aura means a person has repeated seizures that begin in one small area of one brain hemisphere (a “focal” or “partial” onset), and the very first symptom is something ...
Familial epilepsy with auditory features is a type of focal (partial) epilepsy that tends to run in families and usually starts in the lateral (outer) part of the temporal lobe of the brain. People ...
Auriculoosteodysplasia is a very rare inherited condition. It mainly affects the bones and the outer part of the ears. People with this condition have changes in several bones (called “multiple ...
Question mark ear syndrome describes a rare pattern of ear and jaw development differences present at birth. The most visible sign is a special ear shape that looks like a question mark: the top rim ...
Auriculocondylar syndrome is a genetic condition that affects how the ears and lower jaw form before birth. A typical sign is the “question-mark ear”—a split between the upper ear and the earlobe. ...
Auditory neuropathy–optic atrophy syndrome (ANOA) is a rare neurological condition in which the hearing nerve pathway does not transmit sound signals properly (auditory neuropathy) and the optic ...
Auditory dys-synchrony (auditory neuropathy spectrum disorder, ANSD) is a hearing disorder in which sound enters the ear normally and the outer hair cells of the cochlea may work, but the electrical ...
Auditory neuropathy is a hearing disorder where the inner ear (the cochlea) often “hears” sound normally, but the message does not travel correctly along the hearing nerve to the brain. People may ...
Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic condition where a child develops trouble with ...
Arthrogryposis-like hand anomaly–sensorineural deafness syndrome is a very rare genetic condition in which a person is born with hand deformities that look like arthrogryposis (stiff joints and ...
Arrhinia-Choanal Atresia-Microphthalmia Syndrome (BAMS) means a baby is born without the external nose or with a very tiny or flat nose (arhinia), the back of the nose may be blocked (choanal ...
