MRE11 (MRE11A)–related ataxia-telangiectasia–like disorder 1 (ATLD1) is a rare, inherited brain and body condition caused by harmful changes in the MRE11A ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Ataxia-telangiectasia-like disorder (ATLD) is a very rare, inherited brain and body condition. It happens when both copies of a person’s MRE11 gene have ...
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare, inherited brain condition that slowly damages the cerebellum—the part of the brain that controls ...
Ataxia-tapetoretinal degeneration syndrome—better known today as spinocerebellar ataxia type 7 (SCA7) is a rare, inherited neurodegenerative disease in which a ...
Fenton–Wilkinson–Toselano syndrome is an extremely rare genetic condition in which three main problems occur together: (1) problems with balance and ...
Ataxia-photosensitivity-short stature syndrome (APSS) is a very rare, likely genetic condition. The classic triad is: (1) problems with balance and ...
Myelocerebellar disorder is an older name that doctors used for a rare, inherited condition now usually called ataxia-pancytopenia (AP) syndrome caused by ...
Inherited bone-marrow failure means a person is born with a change in a gene that weakens the bone marrow. The bone marrow is the soft center part inside ...
Ataxia-Pancytopenia Syndrome (ATXPC) is a rare, inherited disorder caused most often by changes (variants) in a gene called SAMD9L. “Ataxia” means problems ...
Hypogonadotropic hypogonadism—also called secondary hypogonadism—happens when the brain’s hormone signals are too weak to tell the gonads (testes or ovaries) ...
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 ...
