Similar to イソ吉草酸血症

Usher syndrome

Ehlers–Danlos syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alport syndrome

Hereditary sensory and autonomic neuropathy

Werner syndrome

Trisomy 18

Familial Mediterranean fever

Cronkhite–Canada syndrome

Sotos syndrome

Osteopetrosis

Huntington's disease

Mitochondrial disease

Leber's hereditary optic neuropathy

Neuromyotonia

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

H syndrome

Ohtahara syndrome

Orotic aciduria