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Prevalence (%) of clinical parameters based on data from 1 references describing 9 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Intrauterine growth retardation | multi | 100 % | 23993194 | 2014-04-25 | |
| Developmental delay | nervous | 100 % | 23993194 | 2014-04-25 | |
| Lactate accumulation | circulatory | 100 % | 23993194 | 2014-04-25 | |
| Leukodystrophy | nervous | 100 % | 23993194 | 2014-04-25 | |
| Hypotonia | nervous | 100 % | 23993194 | 2014-04-25 | |
| Muscle atrophy | skeletal | 100 % | 23993194 | 2014-04-25 | |
| Myopathy | skeletal | 100 % | 23993194 | 2014-04-25 | |
| Dysphagia | nervous | 88 % | 23993194 | 2014-04-25 | |
| Cerebral atrophy | nervous | 86 % | 23993194 | 2014-04-25 | |
| Seizures | nervous | 78 % | 23993194 | 2014-04-25 | |
| Failure to thrive | multi | 63 % | 23993194 | 2014-04-25 | |
| Basal ganglia pathology | nervous | 57 % | 23993194 | 2014-04-25 | |
| Facial dysmorphism | skeletal | 56 % | 23993194 | 2014-04-25 | |
| Ataxia | nervous | 43 % | 23993194 | 2014-04-25 | |
| Dystonia | nervous | 33 % | 23993194 | 2014-04-25 |
List of references:
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Xiaowu Gai, Daniele Ghezzi, Mark A Johnson, Caroline A Biagosch, Hanan E Shamseldin, Tobias B Haack, Aurelio Reyes, Mai Tsukikawa, Claire A Sheldon, Satish Srinivasan, Matteo Gorza, Laura S Kremer, Thomas Wieland, Tim M Strom, Erzsebet Polyak, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A Salih, Emtethal Al-Jishi, Christopher P Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S Alkuraya, Marni J Falk, Massimo Zeviani,
American journal of human genetics - Sep 2013