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