Mitochondrial Complex V Deficiency Nuclear Type 1
MC5DN1

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Lactate accumulation multi 100 % 14757859 2018-08-22
Seizures nervous 100 % 14757859 2018-08-22
Hepatomegaly digestive 100 % 14757859 2018-08-22
Basal ganglia pathology nervous 50 % 14757859 2018-08-22
Large mouth integumentary 50 % 14757859 2018-08-22
Broad nasal bridge skeletal 50 % 14757859 2018-08-22
Micrognathia skeletal 50 % 14757859 2018-08-22
Rocker bottom feet skeletal 50 % 14757859 2018-08-22
Contracture skeletal 50 % 14757859 2018-08-22
Camptodactyly skeletal 50 % 14757859 2018-08-22
Corpus callosum thining nervous 50 % 14757859 2018-08-22
Hypotonia nervous 50 % 14757859 2018-08-22
Hypertonia nervous 50 % 14757859 2018-08-22



List of references:


Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, J Smet, R Van Coster,



Journal of medical genetics - Feb 2004