XomeDxSlice Tool

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

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Phenotypes
Hepatic failure

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCD31p21.3100%gene with protein product170995PXMP1Autosomal recessive inheritance; Elevated hepatic transaminases; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Infantile onset; Iron deficiency anemia; Jaundice; Progressive; Splenomegaly
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
AGPAT29q34.3100%gene with protein product603100BSCLAbnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Clitoral hypertrophy; Cystic angiomatosis of bone; Decreased fertility in females; Decreased serum leptin; Diabetes mellitus; Elevated hepatic transaminases; Generalized hirsutism; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; Hirsutism; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Macrotia; Mandibular prognathia; Nephrolithiasis; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent supraorbital ridges; Prominent umbilicus; Reduced intrathoracic adipose tissue; Skeletal muscle hypertrophy; Splenomegaly; Tall stature; Triangular face; Umbilical hernia
AKR1D17q33100%gene with protein product604741SRD5B1Abnormal bleeding; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Chronic hepatic failure; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
ALG116p13.3100%gene with protein product605907Abnormality of immune system physiology; Abnormality of the amniotic fluid; Areflexia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Death in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadism; Intrauterine growth retardation; Large fontanelles; Microcephaly; Micrognathia; Nephropathy; Nonimmune hydrops fetalis; Seizures; Splenomegaly; Thin vermilion border; Type I transferrin isoform profile
ALG61p31.399.94%gene with protein product604566Areflexia; Ataxia; Autosomal recessive inheritance; Elevated serum transaminases during infections; Global developmental delay; Hepatic failure; Muscular hypotonia; Muscular hypotonia of the trunk; Reduced antithrombin III activity; Reduced factor XI activity; Seizures; Strabismus; Type I transferrin isoform profile
ALG811q14.198.39%gene with protein product608103Abnormality of the renal tubule; Cataract; Hepatic failure; LymphedemaPalmoplantar keratoderma plus congenital ichthyosis
ALG911q23.1100%gene with protein product606941DIBD1Abnormal heart morphology; Abnormal lung lobation; Autosomal recessive inheritance; Brachycephaly; Cognitive impairment; Congenital diaphragmatic hernia; Congenital onset; Convex nasal ridge; Delayed CNS myelination; Esotropia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global brain atrophy; Global developmental delay; Hepatic failure; Hepatosplenomegaly; Hypertelorism; Inverted nipples; Large fleshy ears; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Pericardial effusion; Periportal fibrosis; Polycystic kidney dysplasia; Posteriorly rotated ears; Pulmonary hypoplasia; Retrognathia; Seizures; Short long bone; Short neck; Skeletal dysplasia; Smooth philtrum; Telecanthus; Ulnar deviation of the hand; Underdeveloped nasal alae
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
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
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
COQ24q21.2399.98%gene with protein product609825Anemia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Elevated serum creatine phosphokinase; Encephalopathy; Glomerulosclerosis; Hepatic failure; Hypergonadotropic hypogonadism; Hypertrophic cardiomyopathy; Intellectual disability; Lactic acidosis; Motor delay; Nephrotic syndrome; Nystagmus; Onset; Pancytopenia; Phenotypic variability; Postural instability; Progressive muscle weakness; Ragged-red muscle fibers; Recurrent myoglobinuria; Rod-cone dystrophy; Scanning speech; Seizures; Sensorineural hearing impairment; Specific learning disability; Visual lossNephrotic Syndrome
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
CYP7B18q12.3100%gene with protein product603711SPG5AAbnormality of coagulation; Abnormality of the cerebral white matter; Abnormality of the coagulation cascade; Abnormality of the urinary system; Acholic stools; Ankle clonus; Autosomal recessive inheritance; Babinski sign; Biliary tract abnormality; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Dysarthria; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Hepatic failure; Hepatitis; Hepatomegaly; Hyperreflexia; Impaired distal proprioception; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Intrahepatic cholestasis; Jaundice; Lower limb amyotrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal cholestatic liver disease; Neonatal onset; Optic atrophy; Paraplegia; Pes cavus; Progressive; Pruritus; Spastic gait; Spastic paraplegia; Splenomegaly; Steatorrhea; Urinary incontinence
CYP7B18q12.3100%gene with protein product603711SPG5AAbnormality of coagulation; Abnormality of the cerebral white matter; Abnormality of the coagulation cascade; Abnormality of the urinary system; Acholic stools; Ankle clonus; Autosomal recessive inheritance; Babinski sign; Biliary tract abnormality; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Dysarthria; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Hepatic failure; Hepatitis; Hepatomegaly; Hyperreflexia; Impaired distal proprioception; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Intrahepatic cholestasis; Jaundice; Lower limb amyotrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal cholestatic liver disease; Neonatal onset; Optic atrophy; Paraplegia; Pes cavus; Progressive; Pruritus; Spastic gait; Spastic paraplegia; Splenomegaly; Steatorrhea; Urinary incontinence
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
EPM2A6q24.399.94%gene with protein product607566Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
FECH18q21.31100%gene with protein product612386Abnormality of the heme biosynthetic pathway; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cholelithiasis; Cutaneous photosensitivity; Eczema; Edema; Erythema; Hemolytic anemia; Hepatic failure; Hypertriglyceridemia; Pruritus
FH1q43100%gene with protein product136850Abnormality of the musculature; Adrenal pheochromocytoma; Agenesis of corpus callosum; Aminoaciduria; Anteverted nares; Autosomal recessive inheritance; Cerebral atrophy; Cerebral hemorrhage; Chest pain; Cholestasis; Choroid plexus cyst; Cutaneous leiomyoma; Depressed nasal bridge; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flushing; Frontal bossing; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hepatic failure; High palate; Hypercalcemia; Hypertelorism; Hypertensive retinopathy; Hypoplasia of the brainstem; Intellectual disability, profound; Lactic acidosis; Metabolic acidosis; Microcephaly; Multiple cutaneous leiomyomas; Nausea; Neurological speech impairment; Open operculum; Optic atrophy; Pallor; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Polycythemia; Polymicrogyria; Positive regitine blocking test; Proteinuria; Pruritus; Pulsatile tinnitus; Recurrent paroxysmal headache; Reduced subcutaneous adipose tissue; Relative macrocephaly; Sinus tachycardia; Status epilepticus; Visual impairment; Weight lossNephrotic Syndrome ; Rhabdomyolysis
FOS14q24.3100%gene with protein product164810Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Bone cyst; Broad foot; Diabetes mellitus; Generalized hirsutism; Growth hormone excess; Hepatic failure; Hepatomegaly; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Insulin resistance; Intellectual disability; Large hands; Lipoatrophy; Mandibular prognathia; Precocious puberty; Prominent supraorbital ridges; Skeletal muscle hypertrophy
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
GALT9p13.3100%gene with protein product606999Abnormal bleeding; Abnormality of the ovary; Aminoaciduria; Autosomal recessive inheritance; Cataract; Cirrhosis; Decreased fertility in females; Decreased liver function; Diarrhea; Failure to thrive; Feeding difficulties; Galactosuria; Hemolytic anemia; Hepatic failure; Hepatomegaly; Hyperchloremic metabolic acidosis; Hypergalactosemia; Hypergonadotropic hypogonadism; Hypoglycemia; Impairment of galactose metabolism; Increased level of galactitol in plasma; Increased level of galactitol in red blood cells; Increased level of galactitol in urine; Increased level of galactonate in red blood cells; Intellectual disability; Jaundice; Metabolic acidosis; Nausea and vomiting; Osteoporosis; Premature ovarian insufficiency; Speech apraxia; Speech articulation difficulties; Vomiting; Weight lossAutoimmune Disorders
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
HSD3B716p11.2100%gene with protein product607764Abnormality of coagulation; Abnormality of the coagulation cascade; Acholic stools; Autosomal recessive inheritance; Biliary tract abnormality; Cirrhosis; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypocholesterolemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12RB119p13.1199.59%gene with protein product601604IL12RBAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Autosomal recessive inheritance; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunodeficiency; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus; Recurrent mycobacterial infections
IL21R16p12.1100%gene with protein product605383Autosomal recessive inheritance; Bronchiectasis; Cholangitis; Chronic diarrhea; Chronic hepatitis due to cryptosporidium infection; Cirrhosis; Failure to thrive; Hepatic failure; Immunodeficiency; Pneumonia; Recurrent sinusitisAutoimmune Disorders
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
LIPA10q23.3199.99%gene with protein product613497Abdominal distention; Adrenal calcification; Anemia; Arteriosclerosis; Ascites; Autosomal recessive inheritance; Bone-marrow foam cells; Cachexia; Cirrhosis; Death in infancy; Diarrhea; Esophageal varix; Failure to thrive; Global developmental delay; Growth delay; Hepatic failure; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hypercholesterolemia; Hypertriglyceridemia; Malnutrition; Nausea and vomiting; Protuberant abdomen; Pulmonary arterial hypertension; Splenomegaly; Steatorrhea; Vacuolated lymphocytes; Vomiting
LIPA10q23.3199.99%gene with protein product613497Abdominal distention; Adrenal calcification; Anemia; Arteriosclerosis; Ascites; Autosomal recessive inheritance; Bone-marrow foam cells; Cachexia; Cirrhosis; Death in infancy; Diarrhea; Esophageal varix; Failure to thrive; Global developmental delay; Growth delay; Hepatic failure; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hypercholesterolemia; Hypertriglyceridemia; Malnutrition; Nausea and vomiting; Protuberant abdomen; Pulmonary arterial hypertension; Splenomegaly; Steatorrhea; Vacuolated lymphocytes; Vomiting
MMEL11p36.32100%gene with protein productMMEL2Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
MOGS2p13.1100%gene with protein product601336Autosomal recessive inheritance; Blepharophimosis; Cerebral atrophy; Congenital onset; Decreased antibody level in blood; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hand clenching; Hepatic failure; Hepatomegaly; High palate; Hypoplasia of the corpus callosum; Hypoventilation; Long eyelashes; Optic atrophy; Overlapping fingers; Prominent occiput; Recurrent fractures; Retrognathia; Seizures; Sensorineural hearing impairment; Short palpebral fissure; Thoracic scoliosis; Wide nose
MPI15q24.1100%gene with protein product154550Abnormal bleeding; Abnormal thrombosis; Autosomal recessive inheritance; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Failure to thrive; Generalized hypotonia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemic hypoglycemia; Hypoalbuminemia; Hypoglycemia; Lymphedema; Malabsorption; Protein-losing enteropathy; Reduced antithrombin III activity; Reduced factor XI activity; Type I transferrin isoform profile; Villous atrophy; Vomiting
MPI15q24.1100%gene with protein product154550Abnormal bleeding; Abnormal thrombosis; Autosomal recessive inheritance; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Failure to thrive; Generalized hypotonia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemic hypoglycemia; Hypoalbuminemia; Hypoglycemia; Lymphedema; Malabsorption; Protein-losing enteropathy; Reduced antithrombin III activity; Reduced factor XI activity; Type I transferrin isoform profile; Villous atrophy; Vomiting
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
NHLRC16p22.3100%gene with protein product608072Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
NR1H412q23.199.89%gene with protein product603826Autosomal recessive inheritance; Cirrhosis; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hyperammonemia; Hypoglycemia; Jaundice; Prolonged prothrombin time; Rapidly progressive
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
PCK120q13.31100%gene with protein product614168Apnea; Autosomal recessive inheritance; Cerebral atrophy; Cyanosis; EEG abnormality; Global developmental delay; Hepatic failure; Hepatic steatosis; Hypoglycemia; Impaired gluconeogenesis; Infantile onset; Optic atrophy; Renal steatosis; Seizures
PCK214q11.2-q12100%gene with protein product614095Autosomal recessive inheritance; Hepatic failure; Hepatic steatosis; Hypoglycemia; Impaired gluconeogenesis; Renal steatosis
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX11B1q21.1100%gene with protein product603867Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dry skin; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypospadias; Intellectual disability, mild; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Migraine; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive hearing impairment; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Urinary incontinence; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
POU2AF111q23.1100%gene with protein product601206Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
PPARG3p25.2100%gene with protein product601487Abnormality of skin pigmentation; Abnormality of the face; Abnormality of the musculature; Abnormality of the neck; Acanthosis nigricans; Accelerated skeletal maturation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Decreased circulating high-density lipoprotein levels; Decreased resting energy expenditure; Diabetes mellitus; Generalized hirsutism; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hirsutism; Hyperglycemia; Hyperhidrosis; Hyperinsulinemia; Hypertension; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hyperuricemia; Increased carotid artery intimal medial thickness; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Large hands; Lipoatrophy; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Mandibular prognathia; Marked muscular hypertrophy; Maternal diabetes; Obesity; Oligomenorrhea; Phenotypic variability; Polygenic inheritance; Precocious puberty; Preeclampsia; Primary amenorrhea; Prominent superficial veins; Prominent supraorbital ridges; Reduced subcutaneous adipose tissue; Secondary amenorrhea; Skeletal muscle hypertrophy; Thin skin; Xanthomatosis
SC5D11q23.3-q24.99.94%gene with protein product602286SC5DLAbnormal platelet morphology; Abnormality of the thoracic spine; Anisopoikilocytosis; Anteverted nares; Arnold-Chiari malformation; Autosomal recessive inheritance; Biparietal narrowing; Bulbous nose; Cataract; Cerebellar cortical atrophy; Cerebral calcification; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Failure to thrive; Full cheeks; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horseshoe kidney; Hypoplasia of penis; Increased mean platelet volume; Intrahepatic cholestasis; Intrauterine growth retardation; Long philtrum; Lumbosacral meningocele; Meningocele; Microcephaly; Microcornea; Micrognathia; Muscular hypotonia; Myoclonus; Narrow forehead; Opacification of the corneal stroma; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent metopic ridge; Ptosis; Seizures; Short nose; Sloping forehead; Specific learning disability; Talipes; Thrombocytopenia; Toe syndactyly
SCYL111q13.1100%gene with protein product607982NTKLAutosomal recessive inheritance; Cerebellar atrophy; Distal sensory impairment; Frequent falls; Gait ataxia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyporeflexia; Motor delay; Sensorimotor neuropathy; Splenomegaly; Tremor
SERPINA114q32.13100%gene with protein productSusceptibility alleles or functional polymorphisms will not be reported.107400PIAutosomal recessive inheritance; Chronic obstructive pulmonary disease; Dyspnea; Elevated hepatic transaminases; Emphysema; Hepatic failure; Hepatitis; Hepatocellular carcinoma; Hepatomegaly; Jaundice
SPIB19q13.33100%gene with protein product606802Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TFAM10q21.1100%gene with protein product600438TCF6, TCF6L2Abnormality of the coagulation cascade; Ascites; Autosomal recessive inheritance; Cirrhosis; Congenital onset; Death in infancy; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hypoglycemia; Intrauterine growth retardation; Jaundice; Microvesicular hepatic steatosis; Progressive
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
TJP29q21.11100%gene with protein product607709DFNA51Autosomal recessive inheritance; Failure to thrive; Hepatic failure; Hepatocellular carcinoma; Increased serum bile acid concentration; Intrahepatic cholestasis; Portal hypertension; Progressive; Pruritus; Rickets; Steatorrhea; Vitamin K deficiency
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
TNFSF159q32100%gene with protein product604052Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TNPO37q32.1100%gene with protein product610032LGMD1FAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; PruritusRhabdomyolysis
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease


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