Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare genetic disorder caused by mutations in the MGLUR1 gene. This gene is responsible for the production of a protein called metabotropic glutamate receptor 1 (mGluR1)...

Autosomal recessive cutis laxa type 1 (ARCL1) is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production ...

Autosomal recessive cutis laxa type 2, classic type is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the produ...

Autosomal recessive cutis laxa type 2A is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a pr...

Autosomal recessive cutis laxa type 2B is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a pr...

Autosomal recessive distal osteolysis syndrome (ARDOS) is a rare genetic disorder characterized by progressive destruction of the bones in the hands and feet. It is caused by mutations in the WNT1 gene, which is responsible for the production of a...

Autosomal recessive 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 producti...

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...