Similar to ポンペ病

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

Ehlers–Danlos syndrome

Trisomy 18

Hypermethioninemia

Osteogenesis imperfecta

Turner syndrome

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome

H syndrome

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial hypercholesterolemia

Familial Mediterranean fever

Kallmann syndrome