Autosomal recessive 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 th...

Autosomal recessive Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and connective tissues. It is caused by mutations in the EMD gene, which is responsible for producing a protein called emerin. This pr...

Autosomal recessive epidermolytic ichthyosis (ARCI) is a rare genetic skin disorder that is characterized by thick, scaly skin. It is caused by mutations in the keratin 1 or keratin 10 genes, which are responsible for producing proteins that form ...

Autosomal recessive extra-oral halitosis is a rare genetic disorder characterized by an unpleasant odor emanating from the mouth and nose. It is caused by a mutation in the gene responsible for the production of an enzyme called cytochrome P450 2E...

Autosomal recessive faciodigitogenital syndrome (FDG) is a rare genetic disorder that affects the development of the face, digits, and genitals. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD)...

Autosomal recessive frontotemporal pachygyria (ARFT) is a rare genetic disorder characterized by abnormal development of the brain's frontal and temporal lobes. It is caused by mutations in the ARFGEF2 gene, which is responsible for the production...

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (AR-GDEB-IF) is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the COL7A1 gene, which is responsible for producin...

Autosomal recessive generalized epidermolysis bullosa simplex (AR-G-EBS) is a rare genetic disorder that affects the skin. It is caused by mutations in the KRT5 or KRT14 genes, which are responsible for producing proteins that help form the skin's...

Autosomal Recessive Hyper IgE Syndrome (AR-HIES) is a rare, inherited disorder characterized by recurrent skin and lung infections, elevated levels of immunoglobulin E (IgE), and other immune system abnormalities. It is caused by mutations in the ...

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a rare genetic disorder caused by mutations in the KCNJ11 gene, which encodes the Kir6.2 protein. This disorder is characterized by excessive insulin production, resulting in hypoglyc...

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This disorder is characterized by excessive insulin production, resulting in hypoglycemia...

Autosomal recessive hypohidrotic ectodermal dysplasia (AR-HED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with AR-HED have sparse or absent scalp and body hair, dry skin, and missing ...

Autosomal recessive hypophosphatemic rickets is a rare inherited 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 producing an enzyme that helps regulate th...

Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the SLC34A3 gene, which is responsible for the production of a protei...

Autosomal recessive infantile hypercalcemia is a rare genetic disorder that is characterized by abnormally high levels of calcium in the blood. It is caused by mutations in the CASR gene, which is responsible for regulating calcium levels in the b...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (AR-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 low...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (AR-CMTB) 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...