Neuronal Ceroid Lipofuscinosis (CLN8-Related)
CLN8-related neuronal ceroid lipofuscinosis (NCL8) is an inherited disorder marked by brain degeneration, leading to a progressive deterioration of
CLN8-related neuronal ceroid lipofuscinosis (NCL8) is an inherited disorder marked by brain degeneration, leading to a progressive deterioration of
CLN6-related neuronal ceroid lipofuscinosis (NCL6) is an inherited disorder known for its brain degeneration, leading to a gradual deterioration
CLN5-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN5 gene, leading to progressive
CLN3-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN3 gene, leading to progressive
Choreoacanthocytosis is a rare neurological disorder primarily impacting the nervous system, resulting in abnormal movements, cognitive difficulties, psychiatric symptoms,
Cerebrotendinous xanthomatosis (CTX) is a condition characterized by abnormal fat accumulation, including cholesterol, within the body. Key manifestations of
Cartilage-hair hypoplasia (CHH) primarily affects bone growth leading to short stature and various skeletal abnormalities. CHH individuals often display
Carnitine palmitoyltransferase II (CPT II) deficiency impairs the body's ability to convert long-chain fatty acids into energy for its
Carnitine palmitoyltransferase IA (CPT1A) deficiency hinders the body's ability to convert long-chain fatty acids into energy for essential bodily