Spinocerebellar ataxia is an umbrella term for a large group of mostly inherited brain disorders that primarily damage the cerebellum (the coordination center) ...

Spinocerebellar ataxia (SCA) and hypogonadotropic hypogonadism (HH) means the nerve pathways that coordinate balance, eye movements, hand control, and ...

Chorioretinal dystrophy is a group of inherited eye conditions in which the retina (the light-sensing layer) and the choroid (the blood-rich layer behind the ...

Boucher-Neuhäuser syndrome is a very rare inherited condition. It has a “triad” of three main problems that tend to appear over time: (1) cerebellar ataxia ...

Ataxia-hypogonadism-choroidal dystrophy syndrome (AHCD) is a very rare, inherited neurological condition defined by a triad: (1) cerebellar ataxia (unsteady ...

Ataxia with oculomotor apraxia type 3 is a very rare, inherited brain and nerve disorder. “Ataxia” means poor balance and clumsy, unsteady movements. ...

Louis-Bar syndrome, also called Ataxia-Telangiectasia (A-T), is a rare, inherited condition that affects movement control, the immune system, and many other ...

Boder–Sedgwick syndrome—better known as Ataxia–Telangiectasia (A-T)—is a rare, inherited condition caused by faults (mutations) in the ATM gene. Children ...

Ataxia-telangiectasia (A-T) is a rare, inherited condition that starts in childhood and affects many body systems. It is caused by harmful changes in both ...

Ataxia-Telangiectasia (A-T) variant is a rare, inherited condition. It affects the brain (especially the cerebellum), the immune system, the lungs, and cancer ...

PNKP oculomotor apraxia is a rare, inherited brain and nerve disorder. It mainly affects how the eyes start a quick movement called a “saccade.” In daily life, ...

Ataxia-oculomotor apraxia type 4 (AOA4) is a rare, inherited brain and nerve disorder. It mainly harms the cerebellum (the balance and coordination center) and ...

Poretti-Boltshauser syndrome (PBS) is a rare, autosomal recessive neuro-ophthalmologic disorder caused by pathogenic variants in the LAMA1 gene, which encodes ...

Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts syndrome (AIOCC) is a rare, inherited brain condition. It mainly affects the cerebellum, the ...

Congenital intrauterine infection-like syndrome is a term doctors used when a baby looks as if they were infected in the womb (like TORCH infections such as ...

Reardon–Baraitser syndrome, also called pseudo-TORCH syndrome or congenital intrauterine infection-like syndrome is a very rare, inherited brain-development ...

Ataxia–hearing loss–intellectual disability syndrome is a very rare genetic neurodevelopmental disorder. Children typically have global developmental delay and ...

Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic ...

Feeding difficulties means someone (most often an infant or child, but sometimes an adult) has ongoing problems with eating or drinking enough, or eating ...

Severe feeding difficulties – failure to thrive – microcephaly due to ASXL3 deficiency (Bainbridge-Ropers/ASXL3-related disorder) is a rare genetic ...