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...

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...