Similar to セルトリ細胞遺残症候群

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Alkaptonuria

Albinism

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome

Werner syndrome

H syndrome

Aicardi–Goutières syndrome

Trisomy 18

Emery–Dreifuss muscular dystrophy

Ohtahara syndrome

Hereditary hemorrhagic telangiectasia

Albright's hereditary osteodystrophy

Orotic aciduria