Atkin-Flaitz syndrome (also reported as Atkin–Flaitz–Patil–Smith syndrome; sometimes listed as Atkin syndrome) is a rare X-linked genetic condition. It mainly ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Feigenbaum–Bergeron–Richardson syndrome is an ultra-rare genetic disorder reported in the medical literature in 1994 in two brothers. It combines premature, ...
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a very rare inherited disorder. It causes early, widespread hardening and narrowing of ...
Spondylo-humero-femoral dysplasia (SHFD) is a very rare genetic bone disorder that affects the spine (spondylo-), the upper arm bones (humeri), and the thigh ...
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia is a rare, inherited brain and nerve disorder that starts in childhood. The main problems are ...
Ataxia-telangiectasia-like disorder 2 (ATLD2) is a very rare, inherited (autosomal recessive) brain and body condition. It happens when both copies of a gene ...
MRE11 (MRE11A)–related ataxia-telangiectasia–like disorder 1 (ATLD1) is a rare, inherited brain and body condition caused by harmful changes in the MRE11A ...
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 ...
Spinocerebellar ataxia (SCA) and hypogonadotropic hypogonadism (HH) means the nerve pathways that coordinate balance, eye movements, hand control, and ...
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 ...
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-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts syndrome (AIOCC) is a rare, inherited brain condition. It mainly affects the cerebellum, the ...
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 ...
