Cobblestone lissencephaly, also known as lissencephaly type 2, is a rare malformation of the central nervous system characterized by a bumpy, or pebbl...

Cobblestone lissencephaly without muscular or ocular involvement is a disorder primarily affecting brain development, resulting in a spectrum of malfo...

Cobb syndrome is a rare condition marked by the presence of vascular lesions that affect multiple tissues including the skin, muscles, bones, and spin...

Cocaine embryofetopathy is a condition observed in newborns who were exposed to cocaine in utero. It is characterized by a range of clinical signs tha...

Cocaine intoxication is a condition that results from exposure to cocaine and affects multiple systems in the body, including the central nervous and...

Coccidioidomycosis is a fungal infection caused by Coccidioides immitis that primarily affects the respiratory system and can also involve the skin. M...

Cochleosaccular degeneration-cataract syndrome is a condition that primarily affects the inner ear and vision, leading to progressive sensorineural he...

Cochleovestibular dysplasia is a condition affecting the inner ear structures that are critical for hearing and balance. The underlying biological cau...

Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is a multisystem condition that affects many parts of the body. It is caused by c...

Cockayne syndrome is a multisystem condition characterized by short stature, a distinctive facial appearance, premature aging, photosensitivity, progr...

Cockayne syndrome type 1 is a rare genetic condition caused by mutations in the ERCC8 gene. This gene is important for the repair of damaged DNA. Chan...

Cockayne syndrome type 2 is a rare genetic disorder that affects the way cells repair DNA damage. This condition is caused by mutations in the ERCC6 g...

Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes premature aging. People with this...

Cocoon syndrome, also known as fetal encasement syndrome, is a lethal developmental disorder that manifests during embryogenesis with severe malformat...

CODAS syndrome is a rare condition marked by multiple congenital anomalies. It affects several parts of the body including the brain, eyes, teeth, ear...

Coenzyme Q10 deficiency is a genetically heterogeneous metabolic condition characterized by reduced levels of coenzyme Q10, a molecule vital for cellu...

Coenzyme Q10 deficiency, primary, 1 is a multisystem condition caused by mutations in the COQ2 gene that impair coenzyme Q10 production, a key molecul...

Coenzyme Q10 deficiency, primary, 3 is a condition caused by mutations in the PDSS2 gene that disrupt the normal production of coenzyme Q10, a molecul...

Coenzyme Q10 deficiency, primary, 9 (also known as COQ10D9) is an inherited metabolic condition that primarily affects the central nervous system and...

Coffin-Lowry syndrome is an uncommon, multi-system neurodevelopmental condition that primarily affects growth, skeletal development, and brain functio...