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 17 (DFNA17) is a genetic type of permanent sensorineural hearing loss that usually starts after language is ...
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), ...
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 ...
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 ...
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 ...
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 ...
Auditory neuropathy–optic atrophy syndrome (ANOA) is a rare neurological condition in which the hearing nerve pathway does not transmit sound signals properly ...
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 ...
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 ...
Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic ...
Arthrogryposis-like hand anomaly–sensorineural deafness syndrome is a very rare genetic condition in which a person is born with hand deformities that look ...
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 ...
Nose agenesis—also called congenital arhinia—means a baby is born without the external nose and usually without the normal nasal passages inside. Because ...
Hyporrhinia means a baby is born with part of the nose missing or very under-developed. Doctors sometimes call it partial arhinia. It happens during early face ...
Bosma arhinia microphthalmia syndrome (BAMS) is a very rare, genetic condition present from birth. The main features are: an absent or very under-developed ...
Arrhinia means a baby is born without a nose. This can range from the near-total absence of the outside nose to complete absence of both the outside nose and ...
Congenital absence of the lacrimal puncta and salivary glands means a baby is born without one or both tiny tear openings on the eyelid edge (the lacrimal ...
Aplasia of Lacrimal and Salivary Glands (ALSG) is a rare, inherited condition where the tear-making glands near the eyes (lacrimal glands) and the ...
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