Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with ADHED have fewer sweat glands than normal, which can lead to overheating a...

Autosomal dominant hypophosphatemic rickets is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the PHEX gene, which is responsible for regulating the amount of phosphate in the bod...

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (ADID-CFCD) is a rare genetic disorder characterized by intellectual disability, craniofacial anomalies, and cardiac defects. It is caused by a mutation in ...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (AD-CMT A) 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 type B (AD-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting in the lower legs, fee...

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

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

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...