XomeDxSlice Tool

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

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Phenotypes
Coma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ACADM1p31.199.99%gene with protein product607008Autosomal recessive inheritance; Cerebral edema; Coma; Decreased plasma carnitine; Elevated hepatic transaminases; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hepatomegaly; Hyperglycinuria; Hypoglycemia; Lethargy; Medium chain dicarboxylic aciduria; Metabolic acidosis; Seizures; VomitingRhabdomyolysis
ALDOB9q31.1100%gene with protein product612724Abdominal pain; Autosomal recessive inheritance; Bicarbonaturia; Cirrhosis; Coma; Elevated hepatic transaminases; Failure to thrive; Fructose intolerance; Gastrointestinal hemorrhage; Glycosuria; Hepatic steatosis; Hepatomegaly; Hyperbilirubinemia; Hyperphosphaturia; Hyperuricemia; Hyperuricosuria; Hypoglycemia; Hypophosphatemia; Intellectual disability; Jaundice; Lactic acidosis; Lethargy; Malnutrition; Metabolic acidosis; Nausea; Proximal renal tubular acidosis; Proximal tubulopathy; Seizures; Transient aminoaciduria; Vomiting
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
ASL7q11.21100%gene with protein product608310Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Dry hair; EEG abnormality; Episodic ammonia intoxication; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Protein avoidance; Respiratory alkalosis; Seizures; Short stature; Trichorrhexis nodosa; VomitingAutoimmune Disorders
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ASS19q34.11100%gene with protein product603470ASSAtaxia; Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Phenotypic variability; Protein avoidance; Respiratory alkalosis; Seizures; Vomiting
ATP1A21q23.2100%gene with protein product182340MHP2Abnormality of movement; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Blurred vision; Choreoathetosis; Coma; Confusion; Diplopia; Drowsiness; Dysarthria; Dysphasia; Dystonia; Episodic ataxia; Episodic hemiplegia; Episodic quadriplegia; Fever; Generalized tonic-clonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Incomplete penetrance; Intellectual disability; Mental deterioration; Migraine with aura; Nystagmus; Seizures; Transient unilateral blurring of vision; Vertigo
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
BCKDHA19q13.2100%gene with protein product608348OVD1AAtaxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
BCKDHB6q14.199.91%gene with protein product248611Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CPS12q34100%gene with protein product608307Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hyperammonemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Muscular hypotonia; Protein avoidance; Respiratory alkalosis; Respiratory insufficiency; Seizures; Vomiting
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
DBT1p21.299.89%gene with protein product248610Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
FBP19q22.32100%gene with protein product611570FBPApnea; Autosomal recessive inheritance; Coma; Dyspnea; Fever; Generalized hypotonia; Hepatomegaly; Hyperventilation; Hypoglycemia; Increased urinary glycerol; Irritability; Ketosis; Lethargy; Metabolic acidosis; Seizures; Tachycardia
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
GKXp21.298.07%gene with protein product300474Adrenal insufficiency; Adrenocortical hypoplasia; Coma; Downturned corners of mouth; Episodic vomiting; Frontal bossing; Global developmental delay; Hypertelorism; Hypertriglyceridemia; Hypoglycemia; Increased urinary glycerol; Intellectual disability; Ketoacidosis; Lethargy; Low-set ears; Metabolic acidosis; Muscular dystrophy; Myopathy; Osteoporosis; Pathologic fracture; Seizures; Short stature; Small for gestational age; Strabismus; X-linked dominant inheritance; X-linked recessive inheritanceHemolytic Anemia ; Nephrotic Syndrome ; Rhabdomyolysis
HLCS21q22.13100%gene with protein product609018Alopecia; Anorexia; Autosomal recessive inheritance; Coma; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hyperammonemia; Hypertonia; Hyperventilation; Irritability; Keratoconjunctivitis; Lethargy; Metabolic acidosis; Muscular hypotonia; Nausea and vomiting; Organic aciduria; Perioral eczema; Respiratory distress; Seizures; Skin rash; Tachypnea; Thrombocytopenia; Vomiting; Weight loss
HMGCL1p36.1199.96%gene with protein product6138983-Methylglutaric aciduria; Autosomal recessive inheritance; Coma; Death in childhood; Decreased plasma carnitine; Excessive daytime somnolence; Fever; Glutaric aciduria; Hepatomegaly; Hyperammonemia; Hypoglycemia; Increased level of 3-hydroxy-3-methylglutaric acid in urine; Increased level of hippuric acid in urine; Metabolic acidosis
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
IVD15q15.1100%gene with protein product607036Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; Dehydration; Global developmental delay; Hyperglycinuria; Ketoacidosis; Lethargy; Leukopenia; Metabolic acidosis; Pancytopenia; Seizures; Thrombocytopenia; Vomiting
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
KYNU2q22.298.99%gene with protein product605197Abnormality of the musculature; Abnormality of the respiratory system; Aminoaciduria; Autosomal recessive inheritance; Coma; Global developmental delay; Hearing impairment; Hypertonia; Hypotension; Intellectual disability; Metabolic acidosis; Nonprogressive encephalopathy; Renal tubular dysfunction; TachycardiaVACTERL Association
MC2R18p11.2100%gene with protein product607397Accelerated skeletal maturation; Autosomal recessive inheritance; Coma; Decreased circulating cortisol level; Failure to thrive; Hyperpigmentation of the skin; Increased circulating ACTH level; Recurrent hypoglycemia; Recurrent infections; Seizures; Tall stature
MCCC13q27.1100%gene with protein product609010Abnormality of leucine metabolism; Abnormality of movement; Acute hepatic steatosis; Acute hyperammonemia; Autosomal recessive inheritance; Coma; Episodic metabolic acidosis; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketonuria; Lethargy; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Seizures; Vomiting
MCCC25q13.2100%gene with protein product609014Abnormality of leucine metabolism; Abnormality of movement; Acute hyperammonemia; Alopecia; Autosomal recessive inheritance; Coma; Failure to thrive; Failure to thrive in infancy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperglycinuria; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketoacidosis; Lethargy; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Propionyl-CoA carboxylase deficiency; Seborrheic dermatitis; Seizures; Skeletal muscle atrophy; Vomiting
MMAA4q31.21100%gene with protein product607481Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Infantile onset; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neutropenia; Pancytopenia; Respiratory distress; Seizures; Thrombocytopenia; Tremor; Vomiting
MMAB12q24.1199.93%gene with protein product607568Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neonatal onset; Neutropenia; Pancytopenia; Respiratory distress; Thrombocytopenia; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
NAGS17q21.31100%gene with protein product608300Aggressive behavior; Autosomal recessive inheritance; Cognitive impairment; Coma; Confusion; Failure to thrive; Hyperammonemia; Increased level of L-glutamic acid in blood; Lethargy; Respiratory distress; Seizures; Vomiting
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
NDUFA1Xq24100%gene with protein product300078Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA1119p13.3100%gene with protein product612638Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF115q15.1100%gene with protein product606934Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
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
NDUFAF33p21.31100%gene with protein product612911C3orf60Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF46q16.1100%gene with protein product611776C6orf66Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF520p12.199.97%gene with protein product612360C20orf7Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFB32q33.1100%gene with protein product603839Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFB98q24.13100%gene with protein product601445Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS12q33.399.99%gene with protein product157655Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS21q23.3100%gene with protein product602985Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Blurred vision; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Mitochondrial respiratory chain defects; Muscle weakness; Nystagmus; Optic atrophy; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Retinal telangiectasia; Retinal vascular tortuosity; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow decrease in visual acuity; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
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
NDUFS65p15.33100%gene with protein product603848Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFV111q13.2100%gene with protein product161015Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFV218p11.22100%gene with protein product600532Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
NUBPL14q1299.86%gene with protein product613621C14orf127Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
OTCXp11.499.65%gene with protein product300461Aminoaciduria; Cerebral edema; Coma; Episodic ammonia intoxication; Episodic ataxia; Failure to thrive; Global developmental delay; Hepatic failure; Hyperammonemia; Hyperglutaminemia; Hypoglycemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Protein avoidance; Pyloric stenosis; Respiratory alkalosis; Seizures; Splenomegaly; Vomiting; X-linked recessive inheritanceVACTERL Association
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; 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
PRF110q22.1100%gene with protein product170280Anemia; Aplastic anemia; Ataxia; Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; CSF pleocytosis; Encephalitis; Failure to thrive; Generalized edema; Generalized hypotonia; Global developmental delay; Hemiplegia; Hemophagocytosis; Hepatomegaly; Hypertonia; Hypertriglyceridemia; Hypoalbuminemia; Hypofibrinogenemia; Hyponatremia; Hypoproteinemia; Increased CSF protein; Increased intracranial pressure; Increased serum ferritin; Increased total bilirubin; Irritability; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Meningitis; Prolonged prothrombin time; Seizures; Splenomegaly; Tetraplegia; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SLC19A32q36.3100%gene with protein product606152Abnormality of the basal ganglia; Autosomal recessive inheritance; Babinski sign; Coma; Confusion; Craniofacial dystonia; Dysarthria; Dysphagia; Encephalopathy; External ophthalmoplegia; Fever; Gait ataxia; Inability to walk; Irritability; Juvenile onset; Morphological abnormality of the pyramidal tract; Muscular hypotonia of the trunk; Mutism; Nystagmus; Paraparesis; Ptosis; Rigidity; Seizures
SLC22A55q31.1100%gene with protein product603377CDSPAcute encephalopathy; Autosomal recessive inheritance; Cardiomegaly; Clumsiness; Coma; Confusion; Congestive heart failure; Decreased carnitine level in liver; Decreased plasma carnitine; Elevated hepatic transaminases; Encephalopathy; Endocardial fibroelastosis; Excessive daytime somnolence; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures with focal onset; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Impaired gluconeogenesis; Lethargy; Muscle weakness; Myopathy; Neck muscle weakness; Recurrent hypoglycemia; Reduced muscle carnitine level; VomitingRhabdomyolysis
SLC25A137q21.3100%gene with protein product603859CTLN2Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Confusion; Decreased circulating high-density lipoprotein levels; Elevated hepatic transaminases; Elevated plasma citrulline; Failure to thrive; Growth delay; Hepatic steatosis; Hepatocellular carcinoma; Hyperammonemia; Hyperbilirubinemia; Hypercholesterolemia; Hypermethioninemia; Hypertriglyceridemia; Intrahepatic cholestasis; Pancreatitis
SLC25A1513q14.11100%gene with protein product603861ORNT1, HHHAbnormal pyramidal signs; Acute encephalopathy; Acute hepatitis; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Coma; Decreased liver function; Decreased nerve conduction velocity; Episodic vomiting; Failure to thrive; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperornithinemia; Hypopigmentation of the fundus; Impaired vibratory sensation; Intellectual disability; Lethargy; Morphological abnormality of the pyramidal tract; Phenotypic variability; Poor coordination; Protein avoidance; Spastic paraparesis; Specific learning disability
SLC25A203p21.31100%gene with protein product613698CACTAbnormality of skeletal muscles; Atrioventricular block; Autosomal recessive inheritance; Bradycardia; Cardiomyopathy; Cardiorespiratory arrest; Coma; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Encephalopathy; Fasting hypoglycemia; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypotension; Irritability; Lethargy; Muscle weakness; Respiratory insufficiency; Rhabdomyolysis; Seizures; Ventricular extrasystoles; Ventricular hypertrophy; Ventricular tachycardiaRhabdomyolysis
TIMMDC13q13.33100%gene with protein product615534C3orf1Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
TMEM126B11q14.1100%gene with protein product615533Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
UCP211q13100%gene with protein product601693BMIQ4Abnormality of fatty-acid metabolism; Coma; Diarrhea; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Neonatal hypoglycemia; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Tachycardia; Vomiting


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