Autosomal dominant congenital benign spinal muscular atrophy (ADCBSMA) is a rare genetic disorder that affects the muscles of the spine and lower body. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein that ...

Autosomal dominant cutis laxa is a rare genetic disorder that affects the skin. It is characterized by loose, wrinkled skin that is prone to sagging and stretching. It is caused by mutations in the elastin gene, which is responsible for producing ...

Autosomal dominant deafness-onychodystrophy syndrome (ADOD) is a rare genetic disorder characterized by hearing loss, nail abnormalities, and skin changes. It is caused by mutations in the GJB2 gene, which is responsible for the production of a pr...

Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (AD-MNM) is a rare genetic disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower limbs, as well as sensory disturbances in the feet...

Autosomal dominant distal renal tubular acidosis (dRTA) is a rare inherited disorder that affects the kidneys' ability to regulate acid-base balance in the body. It is caused by a mutation in the SLC4A1 gene, which is responsible for the productio...

Autosomal dominant dopa-responsive dystonia (DRD) is a rare inherited neurological disorder that is characterized by dystonia, a movement disorder that causes involuntary muscle contractions and abnormal postures. It is caused by a mutation in the...

Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and connective tissues. It is caused by a mutation in the gene that codes for the protein emerin, which is found in the inner membrane ...

Autosomal dominant epidermolytic ichthyosis (ADEI) is a rare genetic skin disorder that is characterized by thick, scaly skin. It is caused by a mutation in the keratin gene, which is responsible for the production of proteins that make up the ski...

Autosomal dominant epilepsy with auditory features (ADEA) is a rare genetic disorder characterized by recurrent seizures that are triggered by auditory stimuli. It is caused by a mutation in the GRIN2A gene, which is responsible for the production...

Autosomal dominant focal dystonia, DYT25 type is a rare genetic disorder that affects the muscles of the face, neck, and head. It is caused by a mutation in the DYT25 gene, which is located on chromosome 19. Symptoms of this disorder include invol...

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet, as well as the formation of blisters on the soles. I...

Autosomal dominant generalized dystrophic epidermolysis bullosa (AD-GDEB) is a rare genetic disorder that causes the skin to become fragile and blister easily. It is caused by mutations in the genes that produce proteins that help to form the skin...

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form is a rare genetic disorder that affects the skin. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein called keratin 5. This prot...

Autosomal dominant generalized epidermolysis bullosa simplex, severe form is a rare genetic disorder that causes the skin to be fragile and easily damaged. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein t...

Autosomal Dominant Hereditary Ataxia (ADHA) is a type of inherited neurological disorder that affects the coordination and balance of the body. It is caused by a mutation in a gene on one of the autosomes, which are the non-sex chromosomes. Sympto...

Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin and lung infections, elevated levels of immunoglobulin E (IgE), and an increased risk of developing certain types of cancer. It is...

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin infections, elevated levels of immunoglobulin E (IgE), and other immune system abnormalities. It is caused by mutations in the STA...