Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (AD-CMT type E) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (AD-CMT F) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lowe...

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 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 fe...

Autosomal dominant Kenny-Caffey syndrome is a rare genetic disorder characterized by short stature, delayed bone development, and abnormally small bones in the hands and feet. It is caused by a mutation in the TBCE gene, which is responsible for t...

Autosomal dominant keratitis is a rare genetic disorder that affects the cornea of the eye. It is caused by a mutation in the gene that codes for the protein keratin, which is responsible for the structure and strength of the cornea. Symptoms of t...

Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a rare, inherited form of muscular dystrophy that affects the muscles of the arms and legs. It is caused by a mutation in the gene encoding the protein calpain-3. Symptoms of LG...

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a rare, inherited form of muscular dystrophy that affects the muscles of the arms and legs. It is caused by a mutation in the CAPN3 gene, which is responsible for producing the ...

Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent...

Autosomal dominant macrothrombocytopenia is a rare inherited disorder characterized by abnormally large platelets in the blood. It is caused by a mutation in the MYH9 gene, which is responsible for the production of a protein involved in the forma...

Autosomal dominant mitochondrial myopathy with exercise intolerance is a rare genetic disorder that affects the muscles and causes them to become weak and easily fatigued. It is caused by a mutation in the mitochondrial DNA, which is passed down f...

Autosomal dominant multiple pterygium syndrome (ADMPS) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by a mutation in the gene that codes for th...

Autosomal dominant myoglobinuria is a rare inherited disorder that affects the muscles. It is caused by a mutation in the myoglobin gene, which is responsible for producing the protein myoglobin. People with this disorder experience episodes of mu...

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome (ADMMSRD) is a rare genetic disorder characterized by myopia (nearsightedness), midfacial retrusion (underdevelopment of the midface), sensorine...

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic disorder that affects the eyes. It is characterized by inflammation of the retina and vitreous, as well as the formation of abnormal blood vessels in the eye. ...

Autosomal dominant omodysplasia is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein omodysplasin, which is involved in the developme...

Autosomal dominant optic atrophy and cataract is a rare genetic disorder that affects the eyes. It is caused by a mutation in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure of the mitochondria...