KCNJ11-related congenital hyperinsulinism is a rare condition where a baby’s pancreas releases too much insulin. Insulin lowers blood sugar. When insulin is ...

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a genetic condition where a baby’s pancreas makes too much insulin from birth. “Autosomal ...

Autosomal recessive frontotemporal pachygyria is a rare brain-development condition. “Pachygyria” means the brain’s surface has few, broad folds instead of ...

Teebi–Naguib–Al-Awadi syndrome is a very rare, inherited birth-difference condition first described in families from Kuwait. Children are typically short for ...

Facio-Digito-Genital Syndrome, Kuwait type is a very rare, inherited condition that mainly affects the face, the fingers and toes, and the male genitals. ...

Aarskog-like syndrome is a rare genetic condition that looks very similar to Aarskog–Scott syndrome but does not always meet every classic feature or may be ...

Autosomal recessive faciodigitogenital syndrome is a very rare genetic condition. It affects the face (“facio”), the fingers and toes (“digito”), and the ...

Autosomal recessive epidermolytic ichthyosis (AREI) is a very rare inherited skin disorder. Babies are usually born with red skin and fragile skin that ...

PINK1 type of young-onset Parkinson disease is a genetic form of Parkinson disease that usually begins in young adults (often in the 20s–30s). It is caused by ...

Parkinson’s disease caused by PINK1 mutation (PINK1-PD) is a genetic form of Parkinson’s that usually starts early in adult life. “PINK1” is a gene that helps ...

Autosomal recessive early-onset Parkinson disease 6 is a genetic form of Parkinson’s disease caused by two disease-causing variants (one from each parent) in ...

Tyrosine hydroxylase–deficient dopa-responsive dystonia is a rare, inherited movement disorder. It happens because the TH gene does not work properly. The TH ...

Segawa syndrome is a rare movement disorder where the brain does not make enough dopamine, a chemical that helps muscles move smoothly. Because of this ...

Dopa-responsive dystonia (DRD) is a rare, highly treatable movement disorder in which muscles contract or twist involuntarily (dystonia). Symptoms often start ...

Autosomal recessive infantile parkinsonism is a group of rare brain movement disorders that start very early in life—often in the first months or first years. ...

Autosomal recessive DOPA-responsive dystonia is a group of rare genetic conditions where the brain cannot make enough dopamine, a chemical that helps control ...

Distal hereditary motor neuropathy, autosomal recessive type 2, is a nerve disease that mainly damages motor neurons—the long wires (axons) that carry signals ...

Distal hereditary motor neuropathy, Jerash type is a rare, inherited nerve and muscle disease. It harms the motor nerves that control muscle movement. It ...

Autosomal recessive distal spinal muscular atrophy 2 (DSMA2) is a very rare, inherited nerve-and-muscle disorder. It mainly damages the lower motor neurons ...

IGHMBP2-related spinal muscular atrophy—better known as SMARD1—is a rare, inherited nerve and muscle disease. Babies usually look well at birth, then develop ...