Robinow syndrome is a rare genetic condition that changes how the skeleton and some organs grow. It mainly affects the bones of the arms and legs, the face, ...

Costovertebral segmentation defect–mesomelia syndrome is a rare genetic condition. It mainly affects the bones of the spine and ribs (“costovertebral”) and the ...

Autosomal recessive Robinow syndrome is a very rare genetic condition that changes how bones, the face, spine, ribs, genitals, and sometimes the heart and ...

Progressive external ophthalmoplegia (PEO) is a mitochondrial muscle condition where the muscles that move the eyes slowly become weak. Over years, people ...

Autosomal recessive progressive external ophthalmoplegia is a rare, inherited mitochondrial muscle disease. “External ophthalmoplegia” means the eye-moving ...

Microcephalia vera” means “true microcephaly.” Doctors used this older term for babies who are born with a much smaller head because the brain did not grow ...

Autosomal recessive primary microcephaly is a genetic condition where a baby is born with a head size that is much smaller than expected for age and sex. The ...

Immunodeficiency type 20 is a rare, inherited immune disorder. It affects a group of white blood cells called natural killer (NK) cells. People with this ...

Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer (NK) Cell Cytotoxicity is a genetic immune disorder that runs in ...

Infantile polycystic kidney disease—usually called autosomal recessive polycystic kidney disease (ARPKD)—is a genetic disease. A baby is born with it when they ...

Autosomal recessive infantile polycystic kidney disease—most often called ARPKD—is a rare genetic condition. It usually shows up before birth or in the first ...

Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited condition in which a baby is born with very small, fluid-filled sacs (micro-cysts) ...

PLA2G6 (phospholipase A2 group VI) hereditary late-onset Parkinson disease is a genetic form of parkinsonism (often called PARK14) caused by harmful changes ...

PLA2G6-related late-onset Parkinson disease is a rare, inherited brain disorder. It happens when both copies of a gene called PLA2G6 have harmful changes ...

Dystonia-parkinsonism, Paisán-Ruiz type” refers to an autosomal recessive movement-disorder phenotype caused by biallelic pathogenic variants in the PLA2G6 ...

Autosomal recessive Parkinson disease type 14 is a rare inherited form of Parkinsonism. It usually starts in childhood, teenage years, or early adulthood. The ...

Adult-onset dystonia-parkinsonism is a movement-disorder syndrome that starts in adult life. It mixes two kinds of problems. “Dystonia” means muscles pull or ...

Autosomal recessive Parkinson disease 14 is a rare, inherited form of early-onset parkinsonism caused by harmful changes (variants) in a gene called PLA2G6. ...

Wallis-type palmoplantar keratoderma with congenital alopecia is a rare inherited skin and hair disorder. Babies are usually born with little or no scalp hair ...

Palmoplantar keratoderma and congenital alopecia type 2 (PPK-CA2) is a very rare, inherited skin and hair condition. Babies are born with little or no scalp ...