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...

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome (ARIS) is a rare genetic disorder characterized by a combination of neurological and ocular symptoms. It is caused by mutations in the SLC25A12 gene, which is re...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Autosomal recessive lower motor neuron disease with childhood onset is a rare genetic disorder that affects the lower motor neurons in the brain and spinal cord. It is characterized by progressive muscle weakness and wasting, as well as difficulty...

Autosomal recessive malignant osteopetrosis is a rare genetic disorder that affects the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of a protein that helps regulate the activity of certain cells in t...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is a rare genetic disorder caused by mutations in the RORgamma gene. This gene is responsible for the production of a protein calle...