Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy Syndrome is a genetic disorder that mainly affects motor nerves (the wires that make ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Dominant Deafness–Onychodystrophy (DDOD) syndrome is a very rare genetic condition present from birth. People with this syndrome have sensorineural hearing ...
Autosomal dominant deafness–onychodystrophy syndrome—often shortened to DDOD—is a very rare genetic condition. Children are typically born with severe to ...
Autosomal dominant spastic paraplegia type 9B is a very rare inherited nerve condition in the hereditary spastic paraplegia (HSP) family. It mainly causes ...
Hereditary spastic paraplegia type 9 (SPG9) is a rare, inherited nerve condition. It mainly affects the long nerve fibers that run from the brain to the legs ...
Autosomal dominant chondrodysplasia punctata, Sheffield type, is a rare bone growth condition present from birth. “Chondrodysplasia punctata” means there are ...
Autosomal dominant chondrodysplasia punctata is a rare, inherited bone-growth condition in which a baby is born with tiny “specks” of calcium at the ends of ...
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy without Contractures
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy (without contractures) is a rare inherited nerve–muscle condition. It mainly ...
DYNC1H1-related lower-extremity–predominant autosomal dominant proximal spinal muscular atrophy (often shortened to SMA-LED1 when it is caused by the DYNC1H1 ...
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic nerve-and-muscle condition. It begins in infancy or ...
Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) without contractures is a rare, inherited nerve-and-muscle disorder. “Autosomal ...
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a rare, inherited nerve-and-muscle disorder. It mainly ...
BICD2-Related Lower-Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a very rare, inherited nerve-and-muscle ...
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED2) is a rare inherited nerve-and-muscle disorder. It mainly weakens ...
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a rare, inherited nerve-and-muscle condition. Children develop ...
HARS1-related Charcot-Marie-Tooth disease (often called CMT2W) is an inherited nerve condition that mainly damages the long “wires” (axons) of the peripheral ...
Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a hereditary nerve disorder that mainly damages the long peripheral nerves that move your ...
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the ...
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the ...
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M (CMT2M) is a rare, inherited nerve disease that mainly damages the axon (the long wire) of peripheral ...
