XomeDxSlice Tool

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

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Phenotypes
Reduced tendon reflexes

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ADCY612q13.12100%gene with protein product600294Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Generalized hypotonia; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Reduced tendon reflexes; Respiratory distress
APOB2p24.199.99%gene with protein product107730Abnormal internal carotid artery morphology; Acanthocytosis; Angina pectoris; Aortic atherosclerosis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Corneal arcus; Coronary artery atherosclerosis; Decreased circulating low-density lipoprotein levels; Dyspnea; Heart murmur; Hepatic steatosis; Hypercholesterolemia; Hyperlipidemia; Hypertension; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Reduced tendon reflexes; Renal artery stenosis; Retinal degeneration; Sudden cardiac death; Xanthelasma
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
CNTNAP117q21.2100%gene with protein product602346NRXN4Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Fetal akinesia sequence; Generalized hypotonia; Knee flexion contracture; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Polyhydramnios; Reduced tendon reflexes; Respiratory distress
CNTNAP27q35-q36.1100%gene with protein product604569Cortical dysplasia; Delayed gross motor development; Hyperactivity; Impaired social interactions; Intellectual disability; Progressive language deterioration; Reduced tendon reflexes; Seizures
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
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders of Sex Development
DPM31q22100%gene with protein product605951Autosomal recessive inheritance; Babinski sign; Calf muscle hypertrophy; Chest pain; Decreased sialylation of O-linked protein glycosylation; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Increased variability in muscle fiber diameter; Intellectual disability, profound; Muscle weakness; Muscular dystrophy; Pelvic girdle muscle weakness; Pes planus; Reduced tendon reflexes; Rimmed vacuoles; Stroke-like episode; Type I transferrin isoform profile; Waddling gait
ERCC119q13.32100%gene with protein product126380Abnormal nasal morphology; Abnormality of immune system physiology; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bilateral microphthalmos; Blepharophimosis; Camptodactyly of finger; Cataract; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Congenital onset; Cortical gyral simplification; Cutaneous photosensitivity; Death in infancy; Deeply set eye; Dislocated radial head; EEG abnormality; Everted lower lip vermilion; Failure to thrive in infancy; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture of toe; Global developmental delay; Hip dislocation; Hyperreflexia; Hypertonia; Hypogonadism; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Nystagmus; Polymicrogyria; Premature closure of fontanelles; Prominent metopic ridge; Prominent nasal bridge; Reduced tendon reflexes; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short philtrum; Short stature; Slender long bone; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
FUZ19q13.33100%gene with protein product610622Abnormal vertebral segmentation and fusion; Abnormality of cardiovascular system morphology; Abnormality of the wing of the ilium; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the sacrum; Asymmetry of spinal facet joints; Autosomal dominant inheritance; Bowel incontinence; Decreased muscle mass; Ectopic kidney; Hydrocephalus; Hypoplastic vertebral bodies; Impulsivity; Joint stiffness; Maternal diabetes; Multiple lipomas; Myelomeningocele; Reduced tendon reflexes; Renal agenesis; Scoliosis; Spina bifida occulta; Talipes equinovarus; Ureteral duplication; Urinary incontinence; Vesicoureteral reflux
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
HACD110p12.3399.48%gene with protein product610467PTPLAMuscular hypotonia; Myopathy; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
HSPB17q11.23100%gene with protein product602195Adult onset; Areflexia; Areflexia of lower limbs; Autosomal dominant inheritance; Chronic axonal neuropathy; Decreased motor nerve conduction velocity; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Distal sensory impairment; EMG: chronic denervation signs; EMG: neuropathic changes; Fasciculations; Foot dorsiflexor weakness; Heterogeneous; Hyporeflexia; Hyporeflexia of lower limbs; Impaired pain sensation; Impaired temperature sensation; Limb fasciculations; Lower limb muscle weakness; Muscle cramps; Paresis of extensor muscles of the big toe; Peripheral axonal neuropathy; Peripheral neuropathy; Pes cavus; Reduced tendon reflexes; Slow progression; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Upper limb amyotrophy
ITGA712q13.2100%gene with protein product600536Autosomal recessive inheritance; Cognitive impairment; Congenital muscular dystrophy; Elevated serum creatine phosphokinase; Fatty replacement of skeletal muscle; Increased variability in muscle fiber diameter; Infantile muscular hypotonia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Myopathy; Neonatal hypotonia; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Skeletal muscle atrophyRhabdomyolysis
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
LGI419q13.1299.99%gene with protein product608303Ankle contracture; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Camptodactyly; Congenital onset; Dental crowding; Distal arthrogryposis; Elbow flexion contracture; EMG abnormality; Esotropia; Fetal akinesia sequence; Generalized hypotonia; High palate; Hip contracture; Internally rotated shoulders; Knee flexion contracture; Limitation of joint mobility; Micrognathia; Muscular hypotonia; Narrow forehead; Poor head control; Protruding ear; Ptosis; Reduced tendon reflexes; Respiratory distress; Retrognathia; Scapular winging; Talipes equinovarus
MAP3K202q31.1100%gene with protein productformer name = ZAK609479Autosomal recessive inheritance; Muscular hypotonia; Myopathy; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Sensorineural hearing impairment
MFN21p36.22100%gene with protein product608507Abnormality of color vision; Abnormality of visual evoked potentials; Anosmia; Areflexia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Babinski sign; Central scotoma; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Delayed gross motor development; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dysmetric saccades; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Hammertoe; Hepatomegaly; Hyporeflexia; Incomplete penetrance; Infantile onset; Insulin resistance; Joint stiffness; Kyphosis; Limb muscle weakness; Lumbar hyperlordosis; Multiple lipomas; Onion bulb formation; Optic atrophy; Optic disc pallor; Pain; Paresthesia; Peripheral axonal atrophy; Peripheral axonal neuropathy; Pes cavus; Positive Romberg sign; Proximal muscle weakness; Reduced tendon reflexes; Scoliosis; Slow decrease in visual acuity; Slow progression; Steppage gait; Tinnitus; Variable expressivity; Vocal cord paresis
MTTP4q2399.99%gene with protein product157147MTPAbetalipoproteinemia; Abnormality of movement; Abnormality of retinal pigmentation; Acanthocytosis; Ataxia; Autosomal recessive inheritance; CNS demyelination; Fat malabsorption; Malabsorption; Muscular hypotonia; Peripheral demyelination; Reduced tendon reflexes; Retinal degeneration; Retinopathy
MYL212q24.11100%gene with protein product160781Asymmetric septal hypertrophy; Autosomal dominant inheritance; Chest pain; Dyspnea; Hypertrophic cardiomyopathy; Left ventricular septal hypertrophy; Muscular hypotonia; Myopathy; Palpitations; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Ventricular tachycardia; Vertigo
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
OPA13q2999.94%gene with protein product605290Abnormal amplitude of pattern reversal visual evoked potentials; Abnormal auditory evoked potentials; Abnormality of color vision; Achilles tendon contracture; Adductor longus contractures; Apnea; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breech presentation; Caesarian section; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Dysmetria; Feeding difficulties in infancy; Gait disturbance; Hamstring contractures; Horizontal nystagmus; Hyperreflexia; Hypertrophic cardiomyopathy; Impaired pain sensation; Incomplete penetrance; Increased variability in muscle fiber diameter; Insidious onset; Intellectual disability; Motor delay; Muscular hypotonia of the trunk; Myopathy; Nystagmus; Ophthalmoplegia; Opisthotonus; Optic atrophy; Peripheral neuropathy; Phenotypic variability; Profound global developmental delay; Progressive; Progressive sensorineural hearing impairment; Progressive spasticity; Progressive visual loss; Ptosis; Red-green dyschromatopsia; Reduced tendon reflexes; Reduced visual acuity; Retinal degeneration; Sensorineural hearing impairment; Skeletal muscle atrophy; Strabismus; Tremor; Tritanomaly; Visual impairment; Weak cry
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
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
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate. This gene is available on our menu: https://www.genedx.com/test-catalog/available-tests/rmrp-gene-sequencing-1/157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SELENON1p36.1191.56%gene with protein productFormer name = SEPN1606210RSMD1, MDRS1, SEPN1Abnormality of the rib cage; Abnormality on pulmonary function testing; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Dysphagia; Elbow flexion contracture; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Hamstring contractures; Heterogeneous; High palate; High pitched voice; Hip contracture; Hyperlordosis; Hyporeflexia; Increased variability in muscle fiber diameter; Infantile onset; Limited neck flexion; Long face; Lumbar hyperlordosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathy; Narrow face; Nasal speech; Neck muscle weakness; Neonatal hypotonia; Nocturnal hypoventilation; Nonprogressive; Pectus excavatum; Pneumonia; Poor head control; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restrictive deficit on pulmonary function testing; Scoliosis; Short stature; Skeletal muscle atrophy; Spinal rigidity; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cry
TPM29p13.3100%gene with protein product190990AMCD1Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bulbar palsy; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Decreased fetal movement; Difficulty walking; Dilated cardiomyopathy; Distal arthrogryposis; Downslanted palpebral fissures; Dysphagia; Elbow flexion contracture; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; Gowers sign; Heterogeneous; High palate; Hyporeflexia; Joint stiffness; Kyphoscoliosis; Limb muscle weakness; Long face; Long philtrum; Lumbar hyperlordosis; Mandibular prognathia; Metatarsus adductus; Micrognathia; Motor delay; Muscular hypotonia; Myopathic facies; Myopathy; Narrow face; Narrow mouth; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Overlapping fingers; Pectus excavatum; Prominent nasolabial fold; Protruding ear; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Round ear; Scapular winging; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Variable expressivity; Vertebral segmentation defect; Waddling gait; Weak cry; Webbed neck; Wide nasal bridgeRhabdomyolysis
TPM31q21.3100%gene with protein product191030NEM1Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Dysphagia; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Juvenile onset; Long face; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopathy; Narrow face; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Shoulder girdle muscle atrophy; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cryRhabdomyolysis
TRIM3717q22100%gene with protein product605073MULAbsent frontal sinuses; Astigmatism; Autosomal recessive inheritance; Cachexia; Congestive heart failure; Dental crowding; Depressed nasal bridge; Dolichocephaly; Dysarthria; Frontal bossing; Hepatomegaly; High pitched voice; Hypertelorism; Hypodontia; Hypoplastic frontal sinuses; Intrauterine growth retardation; J-shaped sella turcica; Macrocephaly; Microglossia; Muscular hypotonia; Myocardial fibrosis; Nephroblastoma; Nevus; Pericardial constriction; Pigmentary retinopathy; Reduced tendon reflexes; Short stature; Strabismus; Triangular face; Ventriculomegaly; Weak voice; Wide nasal bridge
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
VANGL11p13.1100%gene with protein product610132Abnormal vertebral segmentation and fusion; Abnormality of cardiovascular system morphology; Abnormality of the wing of the ilium; Anal atresia; Anterior sacral meningocele; Aplasia/Hypoplasia of the sacrum; Autosomal dominant inheritance; Back pain; Bowel incontinence; Constipation; Decreased muscle mass; Dermoid cyst; Ectopic kidney; Headache; Hemisacrum; Hypoplastic vertebral bodies; Impulsivity; Joint stiffness; Maternal diabetes; Meningitis; Neurogenic bladder; Rectal abscess; Reduced tendon reflexes; Renal agenesis; Sacral lipoma; Scoliosis; Talipes equinovarus; Ureteral duplication; Vesicoureteral reflux


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