XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Increased serum lactate

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AARS26p21.1100%gene with protein product612035AARSLApraxia; Ataxia; Autosomal recessive inheritance; Death in infancy; Dementia; Depressivity; Dysarthria; Dystonia; EEG abnormality; Failure to thrive; Generalized muscle weakness; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Loss of speech; Neurodegeneration; Nystagmus; Periventricular leukomalacia; Premature ovarian insufficiency; Progressive; Progressive leukoencephalopathy; Pulmonary hypoplasia; Spasticity; Tremor
ACAD93q21.3100%gene with protein product611103Autosomal recessive inheritance; Cerebral edema; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased plasma carnitine; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; EMG: myopathic abnormalities; Encephalopathy; Exercise intolerance; Failure to thrive; Fatigable weakness; Generalized hypotonia; Generalized muscle weakness; Hepatic failure; Hepatic steatosis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Increased lactate dehydrogenase activity; Increased serum lactate; Lactic acidosis; Microvesicular hepatic steatosis; Muscle weakness; Myalgia; Prolonged prothrombin time; Stroke; ThrombocytopeniaRhabdomyolysis
ACAT26q25.3100%gene with protein product100678Chorea; Generalized hypotonia; Global developmental delay; Increased serum lactate; Increased serum pyruvate; Sporadic
ADAMTS139q34.2100%gene with protein product604134C9orf8Autosomal recessive inheritance; Confusion; Elevated serum creatinine; Fever; Hemolytic-uremic syndrome; Heterogeneous; Increased blood urea nitrogen; Increased serum lactate; Microangiopathic hemolytic anemia; Microscopic hematuria; Prolonged neonatal jaundice; Proteinuria; Reticulocytosis; Schistocytosis; Thrombocytopenia; TremorHemolytic Anemia
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
AIFM1Xq26.1100%gene with protein product300169PDCD8, NAMSDAbnormal middle ear reflexes; Abnormal speech discrimination; Abnormality of the striatum; Areflexia; Decreased nerve conduction velocity; Delayed speech and language development; Developmental regression; Distal muscle weakness; Distal sensory impairment; Generalized hypotonia; Generalized muscle weakness; Hearing impairment; Hypokinesia; Impaired pain sensation; Increased connective tissue; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Irritability; Kyphosis; Moderate global developmental delay; Pes cavus; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorimotor neuropathy; Sensory axonal neuropathy; Sensory neuropathy; Severe muscular hypotonia; Skeletal muscle atrophy; Tinnitus; Tongue fasciculations; Unsteady gait; X-linked recessive inheritance
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
ATPAF217p11.2100%gene with protein product6089183-Methylglutaconic aciduria; Ataxia; Autosomal recessive inheritance; Cryptorchidism; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Infantile onset; Lactic acidosis; Low-set ears; Microcephaly; Prominent nasal bridge; Retrognathia; Short stature
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
C12ORF6512q24.31100%gene with protein product613541Areflexia; Ataxia; Autosomal recessive inheritance; Developmental regression; Distal sensory impairment; Dysarthria; Facial diplegia; Failure to thrive; Generalized hypotonia; Global developmental delay; Increased CSF lactate; Increased serum lactate; Nystagmus; Ophthalmoplegia; Optic atrophy; Paralytic ileus; Progressive; Ptosis; Skeletal muscle atrophy; Visual impairment
CA5A16q24.299.97%gene with protein product114761CA5Autosomal recessive inheritance; Hyperalaninemia; Hyperammonemia; Hypoglycemia; Increased serum lactate; Ketoacidosis; Ketonuria; Lactic acidosis; Lethargy; Metabolic acidosis; Respiratory alkalosis; Tachypnea; Variable expressivity
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
COA52q11.2100%gene with protein product613920C2orf64Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Congenital onset; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COA71p32.3100%gene with protein product615623C1orf163, SELRC1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COQ49q34.11100%gene with protein product612898Autosomal recessive inheritance; Dysphagia; Increased serum lactate; Neonatal hypotonia; Respiratory insufficiency
COQ916q21100%gene with protein product612837C16orf49Autosomal recessive inheritance; Bradycardia; Cerebellar atrophy; Cerebral atrophy; Dystonia; Encephalopathy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Hyperreflexia; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Left ventricular hypertrophy; Postnatal microcephaly; Respiratory insufficiency; Seizures; Weak cry
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1412q13.12100%gene with protein product614478C12orf62Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX201q44100%gene with protein product614698FAM36AAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX6B119q13.12100%gene with protein product124089COX6BAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
CYC18q24.3100%gene with protein product123980Acute hepatic failure; Autosomal recessive inheritance; Elevated hepatic transaminases; Episodic ketoacidosis; Hyperammonemia; Increased serum lactate; Ketoacidosis; Lactic acidosis
DGUOK2p13.1100%gene with protein product601465Abnormal conjugate eye movement; Adult onset; Ascites; Autosomal recessive inheritance; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Decreased activity of mitochondrial respiratory chain; Depletion of mitochondrial DNA in liver; Distal muscle weakness; Dysphonia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized aminoaciduria; Generalized hypotonia; Growth delay; Hepatic failure; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hyperbilirubinemia; Hyperreflexia; Hypoalbuminemia; Hypoglycemia; Hyporeflexia; Hypothermia; Increased serum lactate; Jaundice; Lactic acidosis; Microcephaly; Micronodular cirrhosis; Mitochondrial myopathy; Nystagmus; Peripheral axonal neuropathy; Periportal fibrosis; Polyneuropathy; Portal hypertension; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Splenomegaly; Thrombocytopenia; VomitingRhabdomyolysis
DLD7q31.1100%gene with protein product238331LAD, GCSLAtaxia; Autosomal recessive inheritance; Dystonia; Elevated hepatic transaminases; Elevated plasma branched chain amino acids; Encephalopathy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatic encephalopathy; Hepatomegaly; Hypercoagulability; Hypertrophic cardiomyopathy; Hypoglycemia; Increased serum lactate; Increased urine alpha-ketoglutarate concentration; Lactic acidosis; Lethargy; Metabolic acidosis; Microcephaly; Neurodevelopmental delay; Seizures; Spasticity; Variable expressivity; Vomiting
EARS216p12.2100%gene with protein product612799Absent speech; Autosomal recessive inheritance; Bradykinesia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Developmental regression; Dysplastic corpus callosum; Dystonia; Failure to thrive; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Infantile onset; Lactic acidosis; Leukoencephalopathy; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Seizures; Spastic tetraparesis; Visual impairment
ECHS110q26.3100%gene with protein product602292Apnea; Autosomal recessive inheritance; Dystonia; Generalized hypotonia; Global developmental delay; Increased CSF lactate; Increased serum lactate; Nystagmus; Spasticity
FARS26p25.1100%gene with protein product611592FARS1Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; Death in infancy; EEG abnormality; Feeding difficulties; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hyperreflexia; Increased serum lactate; Lactic acidosis; Lower limb amyotrophy; Microcephaly; Myoclonus; Seizures; Slow progression; Spastic paraplegia; Variable expressivity; Ventriculomegaly
FASTKD22q33.399.99%gene with protein product612322KIAA0971Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
FBXL46q16.1-q16.2100%gene with protein product605654Autosomal recessive inheritance; Cerebral atrophy; Concave nasal ridge; Delayed myelination; Downslanted palpebral fissures; Dysphagia; Encephalopathy; Epicanthus; Everted lower lip vermilion; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Growth delay; Hyperalaninemia; Hypoplasia of the corpus callosum; Hypospadias; Increased serum lactate; Lactic acidosis; Leukodystrophy; Microcephaly; Mitochondrial respiratory chain defects; Narrow face; Phenotypic variability; Protruding ear; Seizures; Skeletal muscle atrophy; Small for gestational age; Thick eyebrow
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
GFM13q25.3299.96%gene with protein product606639Autosomal recessive inheritance; Basal ganglia cysts; Cholestasis; Congenital onset; Delayed myelination; Feeding difficulties; Fulminant hepatic failure; Global brain atrophy; Hepatomegaly; Hyperreflexia; Hypokinesia; Hypoplasia of the corpus callosum; Increased CSF lactate; Increased serum lactate; Intrauterine growth retardation; Metabolic acidosis; Microcephaly; Motor delay; Muscular hypotonia of the trunk; Nystagmus; Poor eye contact; Seizures; Spasticity
GTPBP319p13.11100%gene with protein product608536Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Congestive heart failure; Feeding difficulties; Generalized hypotonia; Global developmental delay; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Variable expressivity
GYS212p12.199.96%gene with protein product138571Autosomal recessive inheritance; Fasting hypoglycemia; Glycosuria; Increased serum lactate; Irritability; Ketonuria; Ketosis; Ketotic hypoglycemia; Neonatal hypoglycemia; Postprandial hyperglycemia; Seizures
HTRA22p13.1100%gene with protein product606441PRSS253-Methylglutaconic aciduria; Apnea; Autosomal recessive inheritance; Bradycardia; Cataract; Cerebral atrophy; Death in infancy; Dystonia; Generalized hypotonia; Growth delay; Hypertonia; Hypoplasia of the corpus callosum; Increased CSF lactate; Increased serum lactate; Neutropenia; Poor suck; Postnatal microcephaly; Respiratory failure; Tremor; Ventriculomegaly
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
LDHA11p15.1100%gene with protein product150000Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased serum lactate; Increased serum pyruvate; Juvenile onset; Muscle cramps; Muscle stiffness; Myalgia; Myoglobinuria; Renal insufficiency; Rhabdomyolysis; RigidityRhabdomyolysis
LIAS4p1499.99%gene with protein product607031Apnea; Autosomal recessive inheritance; Encephalopathy; Feeding difficulties; Flexion contracture; Generalized hypotonia; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Microcephaly; Motor delay; Myoclonus; Profound global developmental delay; Respiratory insufficiency; Seizures; Severe global developmental delay; Sleep disturbance; Spastic tetraplegia
LIPT12q11.2100%gene with protein product610284Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Autosomal recessive inheritance; Bradycardia; Cerebellar atrophy; Death in infancy; Decreased liver function; Delayed myelination; Dystonia; Elevated hepatic transaminases; Global developmental delay; Increased serum lactate; Increased total bilirubin; Infantile onset; Lactic acidosis; Muscular hypotonia of the trunk; Pulmonary arterial hypertension; Spastic tetraparesis
LRPPRC2p2199.97%gene with protein product607544LSFCAnteverted nares; Ataxia; Autosomal recessive inheritance; CNS demyelination; Delayed speech and language development; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Highly arched eyebrow; Hirsutism; Hyperglycemia; Hypertelorism; Hypoglycemia; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased serum lactate; Infantile onset; Lactic acidosis; Low anterior hairline; Malar flattening; Microvesicular hepatic steatosis; Midface retrusion; Peripheral demyelination; Prominent forehead; Strabismus; Tachypnea; Tremor; Wide nasal bridge
LYRM75q23.3-q31.188.47%gene with protein product615831C5orf31Abnormality of the periventricular white matter; Anemia; Ataxia; Autosomal recessive inheritance; Brisk reflexes; Cerebral atrophy; Developmental regression; Dysarthria; Exotropia; External ophthalmoplegia; Failure to thrive; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Intellectual disability; Lactic acidosis; Lethargy; Muscle weakness; Nystagmus; Optic disc pallor; Progressive; Rapidly progressive; Respiratory failure; Spastic tetraparesis
MDH27q11.23100%gene with protein product154100Absent speech; Adrenal pheochromocytoma; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral hemorrhage; Chest pain; Constipation; Delayed myelination; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epileptic encephalopathy; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Feeding difficulties; Flushing; Global developmental delay; Glomerulosclerosis; Hypercalcemia; Hypertensive retinopathy; Hypoplasia of the corpus callosum; Inability to walk; Increased CSF lactate; Increased serum lactate; Nausea; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Poor head control; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Seizures; Sinus tachycardia; Skeletal muscle atrophy; Strabismus; Weight loss
MIPEP13q12.1299.93%gene with protein product602241Autosomal recessive inheritance; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Hypertonia; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Left ventricular noncompaction; Seizures
MPC16q27100%gene with protein product614738BRP44LAutosomal recessive inheritance; Congenital onset; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Increased serum lactate; Increased serum pyruvate; Lactic acidosis; Organic aciduria; Variable expressivity
MRPL33q22.1100%gene with protein product607118RPML3Autosomal recessive inheritance; Dyspnea; Elevated hepatic transaminases; Failure to thrive; Feeding difficulties; Global developmental delay; Hepatomegaly; Hyperalaninemia; Hypertrophic cardiomyopathy; Increased serum lactate
MRPL442q36.1100%gene with protein product611849Autosomal recessive inheritance; Elevated hepatic transaminases; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Microvesicular hepatic steatosis; Variable expressivity
MRPS1610q22.2100%gene with protein product609204Abnormal facial shape; Agenesis of corpus callosum; Autosomal recessive inheritance; Brachydactyly; Congenital onset; Edema; Elevated hepatic transaminases; Feeding difficulties in infancy; Heterogeneous; Hypokinesia; Increased serum lactate; Lactic acidosis; Lethargy; Low-set ears; Neonatal hypotonia; Patent ductus arteriosus; Redundant neck skin; Small for gestational age; Ventriculomegaly
MRPS223q23100%gene with protein product605810Abnormality of the amniotic fluid; Abnormality of the renal tubule; Antenatal onset; Ascites; Autosomal recessive inheritance; Congenital onset; Death in infancy; Delayed myelination; Edema; Generalized hypotonia; Growth delay; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Increased serum lactate; Leukoencephalopathy; Low-set ears; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Posteriorly rotated ears; Redundant neck skin; Retrognathia; Seizures; Spastic tetraplegia
MTO16q13100%gene with protein product614667Arrhythmia; Autosomal recessive inheritance; Cognitive impairment; Congenital onset; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hypertrophic cardiomyopathy; Hypoglycemia; Increased serum lactate; Lactic acidosis; Metabolic acidosis; Poor speech; Small for gestational age
NARS211q14.198.51%gene with protein product612803DFNB94Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical visual impairment; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties; Focal segmental glomerulosclerosis; Generalized hypotonia; Gliosis; Increased serum lactate; Microcephaly; Muscular hypotonia; Myopathy; Neurodegeneration; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Phenotypic variability; Proximal muscle weakness; Ptosis; Skeletal muscle atrophy; Spasticity
NAXE1q2299.95%gene with protein product608862APOA1BPAtaxia; Autosomal recessive inheritance; Brain atrophy; Cerebellar edema; Cerebral edema; Coma; Death in infancy; Developmental regression; Generalized hypotonia; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Leukoencephalopathy; Nystagmus; Rapidly progressive; Seizures; Skin erosion; Strabismus; Tetraparesis; Tremor
NDUFA102q37.399.89%gene with protein product603835Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA1212q22100%gene with protein product614530Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA25q31.3100%gene with protein product602137Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA912p13.3100%gene with protein product603834NDUFS2LAbnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF68q22.1100%gene with protein product612392C8orf38Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS719p13.3100%gene with protein product601825Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS811q13.2100%gene with protein product602141Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
OGDH7p13100%gene with protein product613022Abnormal salivary gland morphology; Abnormal urine alpha-ketoglutarate concentration; Abnormality of Krebs cycle metabolism; Abnormality of movement; Ataxia; Autosomal recessive inheritance; Congenital lactic acidosis; Death in childhood; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertonia; Increased serum lactate; Metabolic acidosis; Short stature; Skeletal muscle atrophy
PC11q13.2100%gene with protein product608786Autosomal recessive inheritance; Clonus; Congenital onset; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperalaninemia; Hypoglycemia; Increased serum lactate; Increased serum pyruvate; Intellectual disability; Lactic acidosis; Neuronal loss in the cerebral cortex; Periventricular leukomalacia; Proximal renal tubular acidosis; SeizuresAplastic Anemia ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Heterotaxy ; Inflammatory Bowel Disease ; Nephrotic Syndrome ; Obesity; VACTERL Association
PDHA1Xp22.1299.65%gene with protein product300502PDHAAbnormality of eye movement; Agenesis of corpus callosum; Anteverted nares; Apneic episodes precipitated by illness, fatigue, stress; Basal ganglia cysts; Cerebral atrophy; Choreoathetosis; Chronic lactic acidosis; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Episodic ataxia; Flared nostrils; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lethargy; Long philtrum; Microcephaly; Phenotypic variability; Ptosis; Seizures; Severe lactic acidosis; Small for gestational age; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance
PDSS110p12.197.07%gene with protein product607429TPRTAortic regurgitation; Areflexia; Autosomal recessive inheritance; Cutis marmorata; Increased serum lactate; Intellectual disability, mild; Macrocephaly; Mitral regurgitation; Obesity; Optic atrophy; Peripheral neuropathy; Pulmonary arterial hypertension
PDSS26q2199.94%gene with protein product610564C6orf210Autosomal recessive inheritance; Cortical visual impairment; Edema; Feeding difficulties; Increased serum lactate; Neonatal hypotonia; Nephrotic syndrome; Proteinuria; Status epilepticusNephrotic Syndrome
PET10019p13.299.94%gene with protein product614770C19orf79Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
PNPLA87q31.199.98%gene with protein product612123Autosomal recessive inheritance; Dysarthria; Dysmetria; Dystonia; Episodic vomiting; Focal seizures with impairment of consciousness or awareness; Generalized hypotonia; Gowers sign; Hemiparesis; Hyperalaninemia; Increased serum lactate; Increased serum pyruvate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Moderate sensorineural hearing impairment; Postnatal growth retardation; Progressive; Spasticity; Toe walking
PNPO17q21.32100%gene with protein product603287Abnormality of eye movement; Anemia; Autosomal recessive inheritance; Decreased CSF homovanillic acid; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hypertonia; Hypoglycemia; Increased serum lactate; Metabolic acidosis; Muscular hypotonia of the trunk; Myoclonus; Premature birth; Progressive microcephaly; Seizures; Unsteady gait
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG217q23.398.4%gene with protein product604983Adult onset; Arrhythmia; Autosomal dominant inheritance; Cytochrome C oxidase-negative muscle fibers; Elevated serum creatine phosphokinase; Exercise intolerance; Facial palsy; Glucose intolerance; Increased serum lactate; Limb muscle weakness; Multiple mitochondrial DNA deletions; Myalgia; Progressive; Progressive external ophthalmoplegia; Progressive muscle weakness; Ptosis; Variable expressivity
PUS112q24.3399.99%gene with protein product608109Anemia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Delayed puberty; Distichiasis; EMG abnormality; Erythroid hyperplasia; Exercise intolerance; Failure to thrive; Generalized limb muscle atrophy; Glaucoma; High palate; Hypochromic anemia; Increased serum ferritin; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Microcytic anemia; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Pallor; Progressive muscle weakness; Scoliosis; Short nose; Sideroblastic anemiaAplastic Anemia ; Bone Marrow Failure Syndromes
RARS26q1599.36%gene with protein product611524RARSLAbsent speech; Apnea; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Death in childhood; Deeply set eye; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased CSF lactate; Increased serum lactate; Lower limb spasticity; Narrow forehead; Narrow palate; Poor head control; Poor suck; Progressive; Progressive microcephaly; Prominent nasal bridge; Seizures; Upper limb spasticity; Variable expressivity
RMND16q25.199.93%gene with protein product614917C6orf96Areflexia; Autosomal recessive inheritance; Cerebral cortical atrophy; CNS hypomyelination; Congenital onset; Death in infancy; Decreased liver function; Delayed myelination; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic steatosis; Hypoplasia of the corpus callosum; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Lethargy; Myopathy; Pachygyria; Renal cyst; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Seizures; Severe muscular hypotonia; Variable expressivity
RNASEH12p25.3100%gene with protein product604123Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Exercise intolerance; Increased serum lactate; Postural instability; Progressive; Progressive external ophthalmoplegia; Ptosis; Skeletal muscle atrophy; Unsteady gait
SCO117p13.199.99%gene with protein product603644SCOD1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
SCO222q13.33100%gene with protein product604272MYP6Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia gliosis; Congenital onset; Death in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Limited extraocular movements; Myopia; Neuronal loss in central nervous system; Respiratory distress
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHAF119q13.12100%gene with protein product612848Abnormal mitochondria in muscle tissue; Ataxia; Autosomal recessive inheritance; Babinski sign; Cognitive impairment; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dystonia; Exercise intolerance; Flexion contracture; Hyperreflexia; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Left ventricular noncompaction; Leukoencephalopathy; Muscle weakness; Myoclonus; Neonatal hypotonia; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive leukoencephalopathy; Ptosis; Ragged-red muscle fibers; Seizures; Short stature; Spasticity; Stress/infection-induced lactic acidosis; Visual impairment
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
SERAC16q25.399.79%gene with protein product6147253-Methylglutaconic aciduria; Abnormality of extrapyramidal motor function; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Brain atrophy; Cerebellar atrophy; Developmental regression; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperammonemia; Hypoglycemia; Increased serum lactate; Intellectual disability; Lactic acidosis; Neonatal sepsis; Recurrent infections; Sensorineural hearing impairment; Spasticity
SFXN410q26.11100%gene with protein product615564Autosomal recessive inheritance; Delayed speech and language development; Dysmetria; Generalized hypotonia; Increased serum lactate; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Lactic acidosis; Skeletal muscle atrophy; Tremor; Variable expressivity; Visual impairment
SLC25A263p14.199.97%gene with protein product611037Abdominal pain; Autosomal recessive inheritance; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Fatigue; Global developmental delay; Increased serum lactate; Infantile onset; Muscle weakness; Polyhydramnios; Poor appetite; Ragged-red muscle fibers; Respiratory failure; Severe lactic acidosis; Variable expressivity
SLC25A312q23.1100%gene with protein product600370PHCAbnormal mitochondrial shape; Abnormality of the mitochondrion; Autosomal recessive inheritance; Cyanosis; Failure to thrive; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Low-output congestive heart failure; Metabolic acidosis; Muscular hypotonia; Myopathy; Respiratory insufficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
SURF19q34.299.74%gene with protein product185620Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; Axonal loss; CNS demyelination; Difficulty walking; Dysarthria; Dystonia; Easy fatigability; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Horizontal nystagmus; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Kyphoscoliosis; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Peripheral demyelination; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow progression; Spasticity; Strabismus; Variable expressivity
SURF19q34.299.74%gene with protein product185620Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; Axonal loss; CNS demyelination; Difficulty walking; Dysarthria; Dystonia; Easy fatigability; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Horizontal nystagmus; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Kyphoscoliosis; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Peripheral demyelination; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow progression; Spasticity; Strabismus; Variable expressivity
SYNJ121q22.11100%gene with protein product604297Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Dysarthria; Dystonia; Elevated serum creatine phosphokinase; Epileptic encephalopathy; Eyelid apraxia; Fatigue; Feeding difficulties; Gait ataxia; Generalized hypotonia; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Inability to walk; Increased serum lactate; Intellectual disability; Intellectual disability, profound; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Progressive; Progressive neurologic deterioration; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slowed slurred speech; Spastic tetraplegia; Staring gaze; Status epilepticus; Supranuclear gaze palsy; Tremor; Weak voice
TACO117q23.3100%gene with protein product612958CCDC44Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
TARS21q21.2100%gene with protein product612805TARSL1Autosomal recessive inheritance; Congenital onset; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hypoplasia of the corpus callosum; Increased serum lactate; Limb hypertonia; Muscular hypotonia of the trunk
TK216q21100%gene with protein product188250Abnormality of the basal ganglia; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Decreased activity of mitochondrial respiratory chain; Delayed gross motor development; Depletion of mitochondrial DNA in muscle tissue; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Generalized amyotrophy; Generalized hypotonia; Gowers sign; Hearing impairment; Increased serum lactate; Infantile onset; Intellectual disability, progressive; Irritability; Lactic acidosis; Limb muscle weakness; Loss of ability to walk in early childhood; Mitochondrial myopathy; Progressive; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Scapular winging; Seizures; Skeletal muscle atrophy; Variable expressivityRhabdomyolysis
TMEM708q21.11100%gene with protein product6124183-Methylglutaconic aciduria; Abnormal aortic valve morphology; Abnormal pulmonary valve morphology; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arrhythmia; Ataxia; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral cortical atrophy; Congenital onset; Congestive heart failure; Cryptorchidism; Death in infancy; Encephalitis; Encephalopathy; Failure to thrive; Flat face; Flat occiput; Gastroparesis; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperalaninemia; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Inguinal hernia; Intellectual disability, moderate; Intrauterine growth retardation; Lactic acidosis; Leukoencephalopathy; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Moderate global developmental delay; Muscular hypotonia; Oligohydramnios; Premature birth; Respiratory failure; Respiratory insufficiency; Retrognathia; Short philtrum; Small for gestational age; Tremor; Umbilical hernia; Wide mouth; Wide nasal bridge
TRMT10C3q12.3100%gene with protein product615423RG9MTD1Autosomal recessive inheritance; Congenital onset; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Lactic acidosis
TRMT514q23.1100%gene with protein product611023KIAA1393Abnormal activity of mitochondrial respiratory chain; Autosomal recessive inheritance; Babinski sign; Blue sclerae; Brain atrophy; Cirrhosis; Delayed myelination; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hyporeflexia; Increased serum lactate; Malabsorption; Muscular hypotonia; Narrow mouth; Phenotypic variability; Poor speech; Spasticity; Triangular face
TRMU22q13.31100%gene with protein product610230TRMTAbdominal distention; Abnormality of the coagulation cascade; Acute hepatic failure; Aminoglycoside-induced hearing loss; Autosomal recessive inheritance; Elevated hepatic transaminases; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hyperbilirubinemia; Increased serum lactate; Jaundice; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Mitochondrial inheritance; Mitochondrial respiratory chain defects; Vomiting
TSFM12q14.193.89%gene with protein product604723Ataxia; Autosomal recessive inheritance; Cognitive impairment; Concentric hypertrophic cardiomyopathy; Death in childhood; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Dystonia; Elevated serum creatine phosphokinase; Encephalopathy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Muscle weakness; Neonatal hypotonia; Optic atrophy; Optic neuropathy; Patent ductus arteriosus; Patent foramen ovale; Phenotypic variability; Respiratory failure; Rhabdomyolysis; Seizures; Tremor; Ventriculomegaly; Visual impairment
TUFM16p11.2100%gene with protein product602389Autosomal recessive inheritance; Death in infancy; Developmental regression; Encephalopathy; Hepatomegaly; Hyperammonemia; Increased serum lactate; Infantile onset; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Opisthotonus; Polymicrogyria; Respiratory failure
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
TXN222q12.3100%gene with protein product609063Autosomal recessive inheritance; Axonal degeneration; Cerebellar atrophy; Congenital onset; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Delayed CNS myelination; Dystonia; Feeding difficulties; Generalized hypotonia; Global brain atrophy; Global developmental delay; Increased CSF lactate; Increased CSF protein; Increased serum lactate; Infantile onset; Microcephaly; Optic atrophy; Optic neuropathy; Peripheral neuropathy; Progressive; Retinopathy; Seizures; Spasticity; Subependymal cysts
UQCC311q12.3100%gene with protein product616097C11orf83Autosomal recessive inheritance; Congenital onset; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hypoglycemia; Increased serum lactate; Lactic acidosis
UQCRC216p12.2100%gene with protein product191329Autosomal recessive inheritance; Hyperammonemia; Hypoglycemia; Increased serum lactate; Increased serum pyruvate; Metabolic acidosis
UQCRQ5q31.1100%gene with protein product612080Abnormality of extrapyramidal motor function; Absent speech; Ataxia; Athetosis; Autosomal recessive inheritance; Dystonia; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased serum lactate; Intellectual disability; Intellectual disability, severe
YARS212p11.21100%gene with protein product610957Anemia; Autosomal recessive inheritance; Delayed puberty; Distichiasis; Dysphagia; EMG abnormality; Exercise intolerance; Failure to thrive; Generalized amyotrophy; Generalized limb muscle atrophy; Glaucoma; Growth delay; High palate; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Nystagmus; Phenotypic variability; Progressive; Progressive muscle weakness; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Short nose; Sideroblastic anemia; StrabismusAplastic Anemia ; Bone Marrow Failure Syndromes


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome