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  3. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
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FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome


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Other Names:
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; Encephalomyopathic mitochondrial DNA depletion syndrome-13; MTDPS13; mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; Encephalomyopathic mitochondrial DNA depletion syndrome-13; MTDPS13; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; FBXL4 Deficiency; BXL4-Related Early-Onset Mitochondrial Encephalopathy See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Mitochondrial DNA depletion syndrome

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 44 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Ataxia 0001251
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Cerebellar atrophy
Degeneration of cerebellum
0001272
Choreoathetosis 0001266
Dystonia 0001332
Elevated hepatic transaminase
High liver enzymes
0002910
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ]
0001875
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
0001357
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
0002719
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Scoliosis 0002650
Short foot
Short feet
Small feet
[ more ]
0001773
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cerebral atrophy
Degeneration of cerebrum
0002059
Concave nasal ridge
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ]
0011120
Delayed myelination 0012448
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Encephalopathy 0001298
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ]
0000232
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hyperalaninemia
Increased blood alanine
Increased serum alanine
[ more ]
0003348
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypospadias 0000047
Increased serum lactate 0002151
Lactic acidosis
Increased lactate in body
0003128
Leukodystrophy 0002415
Mitochondrial respiratory chain defects 0200125
Narrow face
Decreased breadth of face
Decreased width of face
[ more ]
0000275
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Seizure 0001250
Severe global developmental delay 0011344
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
0000574
Showing of 44 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome:
    Mitochondrial Disease Community Registry
     

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road, Suite 201
    Pittsburgh, PA 15239
    Toll-free: 1-888-317-8633
    Telephone: +1-412-793-8077
    Fax: +1-412-793-6477
    E-mail: info@umdf.org
    Website: https://www.umdf.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
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You can help advance rare disease research!
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