Chromosome 22 disease and syndrome list
Chromosome 22 disease and syndrome list
- Pheochromocytoma
- Meningioma
- Cat eye syndrome
- Hyperprolinemia type 1
- DiGeorge syndrome
- Bernard-Soulier syndrome, type B
- Thrombophilia due to heparin cofactor
- Breakpoint cluster region (CML)
- Malignant rhabdoid tumor
- Glutathionuria
- Breast cancer
- Cataract, cerulean, type 2
- Opitz G/BBB syndrome, autosomal dominant
- Schizophrenia
- Ewing sarcoma breakpoint
- Amyotrophic lateral sclerosis (susceptibility to)
- Neurofibromatosis, type 2
- Transcobalamin 2 deficiency
- Glucose-galactose malabsorption
- Sorsby’s fundus dystrophy
- Heme oxygenase
- Schwannomatosis
- Pulmonary alveolar proteinosis (rare cases)
- Deafness, autosomal dominant
- Colon cancer
- Hirschsprung disease (dominant megacolon)
- Spinocrebellar ataxia
- Mental retardation, chromosome 22 associated
- Ovarian cancer
- Dermatofibrosarcoma protuberans
- Succinylpurinemic autism
- Lysosomal alpha-N-acetylgalactosaminidase deficiency
- Myoneurogastrointestinal encephalomyopathy
- Metachromatic leukodystrophy
- Glioma of brain
Source: The Sanger Centre, Hinxton, Cambridge, UK.
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