Mitochondrial DNA depletion syndrome 19
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of blood and blood-forming tissues
- Microcytic anemia
Microcytic anemia
- MedGen UID: 1673948
- Concept ID: C5194182
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Microcytic anemia
- Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the genitourinary system
- Hydrocele testis
Hydrocele testis
- MedGen UID: 318568
- Concept ID: C1720771
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydrocele testis
- Abnormality of the musculoskeletal system
- Depletion of mitochondrial DNA in muscle tissue
Depletion of mitochondrial DNA in muscle tissue
- MedGen UID: 867163
- Concept ID: C4021521
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Depletion of mitochondrial DNA in muscle tissue
- Abnormality of the nervous system
- Dyskinesia
Dyskinesia
- MedGen UID: 8514
- Concept ID: C0013384
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Focal-onset seizure
Focal-onset seizure
- MedGen UID: 199670
- Concept ID: C0751495
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Multifocal epileptiform discharges
Multifocal epileptiform discharges
- MedGen UID: 866864
- Concept ID: C4021219
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tetraparesis
Tetraparesis
- MedGen UID: 78731
- Concept ID: C0270790
- Finding: Finding
Abnormality of the nervous system
- Dyskinesia
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.