NAD(P)HX epimerase deficiency is a rare metabolic disorder affecting the repair of NADH/NADPH compounds, potentially leading to the accumulation of abnormal metabolites in cells, neurological disorders, and metabolic complications.

Recessive hereditary ataxia due to deficiency is a rare neurological disorder causing loss of balance and motor coordination due to impaired cerebellar or peripheral nerve function, often linked to enzyme or protein deficiencies.

Recessive hereditary ataxia due to deficiency is a rare genetic neurological disorder that causes progressive loss of balance and motor coordination due to a deficiency of a specific enzyme or protein affecting cerebellar or peripheral nerve function.

Recessive hereditary ataxia due to deficiency is a rare genetic neurological disorder causing loss of balance and motor coordination, often due to a deficiency of an essential enzyme or protein, leading to difficulties in walking and speech.

Recessive hereditary ataxia associated with blindness and deafness is a rare neurological disorder characterized by loss of balance and motor coordination, along with progressive hearing and vision loss, due to a genetic defect affecting the central nervous system and sensory functions.

CADDS syndrome (Cerebral, Autoimmune, Dysmorphic, and Developmental Syndrome) is a rare genetic disorder affecting the nervous and immune systems. It is characterized by neurodevelopmental delay, immune dysfunction, seizures, and other symptoms such as motor and cognitive developmental impairment.