User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Autosomal Dominant Nonsyndromic Hearing Loss 2A
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Autosomal dominant nonsyndromic hearing loss 2A—often shortened to DFNA2A—is a genetic form of sensorineural hearing loss (inner-ear hearing loss) caused by ...

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

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

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

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Autosomal Dominant Nonsyndromic Hearing Loss 22 (DFNA22)
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Autosomal dominant nonsyndromic hearing loss 22—short name DFNA22—is a hereditary type of sensorineural hearing loss that usually starts after a child learns ...

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

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

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Autosomal Dominant Sleep-Related Hyperkinetic Epilepsy (ADSHE)
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Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE; formerly ADNFLE) is an inherited epilepsy where brief, sudden, often repetitive ...

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Autosomal Dominant Sleep-Related Hypermotor Epilepsy (ADSHE)
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Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a focal epilepsy syndrome in which short, sudden seizures with major body movements (called ...

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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
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Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare type of focal epilepsy where brief, sudden motor (movement) seizures happen mainly during ...

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Vitreoretinopathy
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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 ...

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Retinitis Proliferans
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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 ...

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CAPN5 Vitreoretinopathy
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CAPN5 vitreoretinopathy is a rare, inherited eye disease caused by harmful changes (variants) in the CAPN5 gene. The disease follows an autosomal dominant ...

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Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
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Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) is a rare, inherited eye disease that runs in families in an autosomal dominant pattern. ...

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Autosomal Dominant Myopia–Midfacial Retrusion–Sensorineural Hearing Loss–Rhizomelic Dysplasia Syndrome
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Autosomal dominant myopia–midfacial retrusion–sensorineural hearing loss–rhizomelic dysplasia syndrome is a very rare, inherited skeletal disorder that affects ...

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Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia  Syndrome
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Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome is a very rare, inherited bone and connective-tissue ...

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Autosomal Dominant Myoglobinuria
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Autosomal dominant myoglobinuria means a person inherits (from one parent) a genetic change that makes their muscles more likely to break down during triggers ...

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Autosomal Dominant Mitochondrial Myopathy with Exercise Intolerance (AD-MMEI)
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Autosomal dominant mitochondrial myopathy with exercise intolerance (AD-MMEI) is a genetic muscle disease where the “power stations” inside muscle ...

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Familial Juvenile Hyperuricemic Nephropathy (FJHN)
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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 ...

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Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
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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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