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...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (AR-CMT2C) 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 D (AR-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 lowe...

Autosomal recessive isolated optic atrophy (ARIO) is a rare genetic disorder that affects the optic nerve, causing vision loss. It is caused by mutations in the OPA1 gene, which is responsible for the production of a protein that helps maintain th...

Autosomal recessive Kenny-Caffey syndrome is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, delayed bone age, and abnormalities of the bones in the hands and feet. Other features may...

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (ARLNSP) is a rare, inherited neurological disorder that affects the development of the nervous system. It is characterized by severe muscle weakness, poor coordination, and se...