Autosomal dominant Albers-Schönberg disease (ADO2) is a rare, inherited bone disorder where bones become abnormally dense but also more fragile. The problem ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Albers-Schönberg disease is a rare, inherited bone disorder where bones become too dense because the cells that normally chew up old bone (called osteoclasts) ...
Autosomal dominant osteopetrosis type 2 (ADO2) is a rare, inherited bone disorder in which bones become unusually dense but also brittle. The problem comes ...
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome is a genetic, mitochondria-related disorder where the optic nerves slowly waste away (optic atrophy), ...
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 nonsyndromic hearing loss 22—short name DFNA22—is a hereditary type of sensorineural hearing loss that usually starts after a child learns ...
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 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 ...
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% ...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited kidney conditions that pass from parent to child in an autosomal-dominant ...
Autosomal Dominant Tubulointerstitial Cystic Kidney Disease (ADTKD) With or Without Hyperuricemia is a rare, inherited kidney disease that runs in families in ...
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is a hereditary kidney disease that runs in families in a dominant pattern (a ...
Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a very rare, inherited muscle disease. It runs in families in an autosomal dominant way ...
