Disease #00131 (MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy), OMIM:603041)

Official abbreviation MNGIE
Name Mitochondrial Neurogastrointestinal Encephalomyopathy
OMIM ID 603041
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 6
Phenotype entries for this disease 3
Associated with 1 gene TYMP
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00000667 F L Yong et al.(2015) M Sabah Bajau - - - MNGIE - TYMP TYMP 3 1 Nur Aisyah Athirah
00000668 F L Yong et al.(2015) F Sabah Bajau - - - MNGIE - TYMP TYMP 2 1 Nur Aisyah Athirah
00000669 F L Yong et al.(2015) M Sabah Bajau - - - MNGIE - TYMP TYMP 1 1 Nur Aisyah Athirah
00000670 F L Yong et al.(2015) M Sabah Bajau - - - MNGIE Polyneuropathy, ophthalmoplegia, leukoencephalopathy, intestinal pseudo-obstruction, weight loss TYMP TYMP 2 1 Nur Aisyah Athirah
00000671 F L Yong et al.(2015) F Sabah Bajau - - - MNGIE Polyneuropathy, ophthalmoplegia, leukoencephalopathy, intestinal pseudo-obstruction, weight loss TYMP TYMP 2 1 Nur Aisyah Athirah
00000796 Kay Sin Tan et al.(2012): http://wprim.whocc.org.cn/admin/article/articleDetail?WPRIMID=628619&articleId=628619 M Malaysia Bajau - - - MNGIE T2-weighted MRI brain showing bilateral leukodystrophy of the proband, FLAIR sequence MRI brain showing subcortical leukodystrophy sparing the corpus callosum, bilateral ptosis and a complex ophthalmoplegia TYMP TYMP 2 1 Nur Aisyah Athirah
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