Total 92 clinical symptoms reported for Mitochondrial DNA depletion syndrome 13  Very Frequent (24)Uncommon (1)Occasional (44)Not Applicable Or Unknown (10)Frequent (13)

Anemia	A reduction in erythrocytes volume or hemoglobin concentration.   Synonyms:Anaemia; Low number of red blood cells or hemoglobin	Very frequent
Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.   Synonyms:Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign	Very frequent
CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	Very frequent
Cerebellar hypoplasia	Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.   Synonyms:Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum	Very frequent
Cytochrome C oxidase-negative muscle fibers	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.   Synonyms:Cytochrome c oxidase deficiency in skeletal muscle; Decreased activity of cytochrome C oxidase in muscle tissue; Decreased skeletal muscle cytochrome c oxidase activity	Very frequent
Decreased total lymphocyte count	A reduced number of lymphocytes in the blood.   Synonyms:Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia	Very frequent
Encephalopathy	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.	Very frequent
Frontal bossing	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.   Synonyms:Frontal protuberance; Skull bossing	Very frequent
Global brain atrophy	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.   Synonyms:Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy	Very frequent
Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.   Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development	Very frequent
Hydrocephalus	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.   Synonyms:Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain	Very frequent
Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.	Very frequent
Hyperkinetic movements	Motor hyperactivity with excessive movement of muscles of the body as a whole.   Synonyms:Hyperactive movements; Hyperkinesia; Hyperkinesis	Very frequent
Hyperreflexia	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.   Synonyms:Increased deep tendon reflexes; Increased reflexes	Very frequent
Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.   Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia	Very frequent
Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.	Very frequent
Leukodystrophy	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.   Synonyms:Degeneration of white matter of brain	Very frequent
Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).   Synonyms:More grooves in brain	Very frequent
Poor head control	Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.   Synonyms:Delay in head control; Delay in head righting; Infant head lag; Poor head control	Very frequent
Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.   Synonyms:Prominent frontal ridge; Prominent metopic suture; Ridging of metopic suture	Very frequent
Prominent supraorbital ridges	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.   Synonyms:Prominent brow; Prominent supraorbital margins; Prominent supraorbital ridge; Protruding supraorbital ridge; Supraorbital hyperostosis	Very frequent
Short chin	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.   Synonyms:Decreased height of chin; Short chin; Short lower third of face; Vertical deficiency of chin; Vertical hypoplasia of chin	Very frequent
Type 2 muscle fiber predominance	An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).   Synonyms:Type II muscle fiber predominance	Very frequent
Umbilical hernia	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.   Synonyms:Umbilical hernias	Very frequent