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, ...
Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE; formerly ADNFLE) is an inherited epilepsy where brief, sudden, often repetitive ...
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a focal epilepsy syndrome in which short, sudden seizures with major body movements (called ...
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare type of focal epilepsy where brief, sudden motor (movement) seizures happen mainly during ...
Vitreoretinopathy is an umbrella term for diseases where the vitreous gel (the clear jelly filling the eye) and the retina (the light-sensing layer lining the ...
Retinitis proliferans is an old medical term that means new, abnormal blood vessels growing on the retina. The retina is the light-sensing layer at the back of ...
CAPN5 vitreoretinopathy is a rare, inherited eye disease caused by harmful changes (variants) in the CAPN5 gene. The disease follows an autosomal dominant ...
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) is a rare, inherited eye disease that runs in families in an autosomal dominant pattern. ...
Autosomal dominant myopia–midfacial retrusion–sensorineural hearing loss–rhizomelic dysplasia syndrome is a very rare, inherited skeletal disorder that affects ...
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome is a very rare, inherited bone and connective-tissue ...
Autosomal dominant myoglobinuria means a person inherits (from one parent) a genetic change that makes their muscles more likely to break down during triggers ...
Autosomal dominant mitochondrial myopathy with exercise intolerance (AD-MMEI) is a genetic muscle disease where the “power stations” inside muscle ...
Familial juvenile hyperuricemic nephropathy is a rare, inherited kidney disease. It runs in families in an autosomal-dominant way (if a parent has it, each ...
Autosomal dominant medullary cystic kidney disease is a lifelong, inherited kidney condition. “Autosomal dominant” means a parent with the disease has a 50% ...
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