Disease #02504 (CEMCOX1 (cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1), OMIM:604377)

Official abbreviation CEMCOX1
Name cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
OMIM ID 604377
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SCO2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00377599 161234 - - M likely - Persian - - - - CEMCOX1 Neuromuscular disease or hereditary sensory-motor neuropathy (axonal) with paraparesis of the legs, contractures of the ankle and metacarpophalangeal joints of the thumb, atrophy of the calf and foot muscles as well as the hand muscles, tongue fasciculations, tremor of the hands, Pes cavus on both sides, loss of the ability to walk at the age of 11. Younger brother with possible onset of similar symptoms SCO2 SCO2 1 1 Andreas Laner
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