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severe X-linked mitochondrial encephalomyopathy

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Uniprot Description A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Mondo Term and Equivalent IDs
MONDO:0010437:  severe X-linked mitochondrial encephalomyopathy
DOID:0111502: 
Orphanet:238329: 
SCTID:722212004: 
UMLS:C3151753: 
UMLS:C4302745: