Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a rare, inherited disorder characterized by recurrent episodes of inflammation, low levels of antibodies, and an overactive immune system. It is caused by mutations in t...

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (APA) is a rare genetic disorder characterized by recurrent episodes of fever, inflammation, and infection caused by an overactive immune system. It is caused by mutat...

Autosomal dominant adult-onset proximal spinal muscular atrophy (AD-SMA) is a rare genetic disorder that affects the muscles of the arms and legs. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein called sur...

Autosomal dominant Alport syndrome is a genetic disorder that affects the kidneys and hearing. It is caused by a mutation in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane of t...

Autosomal dominant aplasia and myelodysplasia is a rare genetic disorder that affects the production of blood cells. It is caused by a mutation in a gene that is responsible for the production of red blood cells, white blood cells, and platelets. ...

Autosomal dominant brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by a mutation in the gene that codes for the protein collagen type II. Symptoms of this disorder include short stature, scoliosis, joint sti...

Autosomal dominant centronuclear myopathy (ADCNM) is a rare inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that usually begins in early childhood. It is caused by mutations in the DNM2 gene, which is respon...

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a rare genetic disorder characterized by progressive cerebellar ataxia (incoordination of movement), hearing loss, and narcolepsy (excessive daytime sleepiness). It is ...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is a rare inherited neurological disorder caused by a mutation in the DGAT2 gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare inherited neurological disorder caused by a mutation in the KIF5A gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare inherited neurological disorder caused by a mutation in the TFG gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as...

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (CMT2G) is a rare inherited neurological disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands. It is caused by mutatio...

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as se...

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as se...

Autosomal dominant Charcot-Marie-Tooth disease type 2B (AD-CMT2B) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as s...

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...