Ataxia neuropathy spectrum is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Ataxia - oculomotor apraxia type 4 is a very rare neurological condition characterized by difficulties with movement coordination and eye movement, an...

Ataxia-pancytopenia syndrome is a very rare inherited disorder, seen in fewer than one in a million people, that affects both the brain and the bone m...

Ataxia-photosensitivity-short stature syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information i...

Ataxia-tapetoretinal degeneration syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Ataxia telangiectasia is a multisystem disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency,...

Ataxia-telangiectasia-like disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Ataxia-telangiectasia-like disorder 1 is a condition primarily affecting coordination and balance, reflecting abnormalities in the cerebellum and rela...

Ataxia-telangiectasia-like disorder 2 is a very rare inherited condition that primarily affects neurological development and multiple body systems. It...

Ataxia - telangiectasia variant is a rare neurological condition characterized primarily by persistent combined dystonia with extrapyramidal features....

Ataxia-telangiectasia with generalized skin pigmentation and early death is an extremely rare condition. Because few cases have been documented, detai...

Ataxia with fasciculations is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Ataxia with oculomotor apraxia type 3 is an inherited neurological condition that primarily affects coordination, eye movements, and motor control. It...

Atelencephaly is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Atelis syndrome 1 is a multisystem condition that affects the blood and immune system, cardiovascular system, eyes, and skin. It is characterized by g...

Atelis syndrome 2 is a multisystem condition that is characterized by a combination of developmental delays, distinctive facial features, and structur...

Atelosteogenesis type I is a severe, multi-system skeletal dysplasia that disrupts normal bone and cartilage development, resulting in profound short-...

Atelosteogenesis type II is a severe congenital bone dysplasia that profoundly affects skeletal development, leading to characteristic limb shortening...

Atelosteogenesis type III is a rare skeletal dysplasia that mainly causes shortened limbs, unusual facial features, and abnormal bone growth seen on r...

ATF6-related retinopathy is a disorder affecting the retina and visual system, with recognized subtypes such as achromatopsia 7 described in clinical...