XomeDxSlice Tool

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

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Phenotypes
Drooling

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
AP4E115q21.2100%gene with protein product607244Abnormality of the voice; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Congenital onset; Decreased muscle mass; Downslanted palpebral fissures; Drooling; Facial hypotonia; Flexion contracture; Global developmental delay; Hyperreflexia; Intellectual disability, severe; Long nose; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Nystagmus; Pointed chin; Prominent antihelix; Seizures; Short philtrum; Short stature; Spastic paraplegia; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal bridge
AP4M17q22.199.99%gene with protein product602296Adducted thumb; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral palsy; Coarse facial features; Congenital onset; Drooling; Gliosis; Global developmental delay; High palate; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, progressive; Intellectual disability, severe; Mandibular prognathia; Microcephaly; Narrow forehead; Neonatal hypotonia; Pseudobulbar signs; Seizures; Short philtrum; Spastic paraplegia; Spastic tetraplegia; Strabismus; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal ridge
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
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
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
COL4A3BP5q13.3100%gene with protein product6046772-3 toe syndactyly; Anteverted nares; Autosomal dominant inheritance; Bilateral ptosis; Broad-based gait; Bruxism; Coarse hair; Cortical visual impairment; Curly hair; Drooling; Epicanthus; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Intellectual disability; Muscular hypotonia of the trunk; Myopathic facies; Oligohydramnios; Postnatal microcephaly; Short foot; Smooth philtrum; Stereotypy; Synophrys; Upslanted palpebral fissure; Wide intermamillary distance; Widely spaced teeth
DLAT11q23.1100%gene with protein product608770DLTAAtaxia; Autosomal recessive inheritance; Choreoathetosis; Decreased activity of the pyruvate dehydrogenase complex; Delayed gross motor development; Drooling; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability, mild; Jerky head movements; Lactic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Oculomotor apraxia; Paroxysmal dystonia; Poor speech; Ptosis; Very rare
EIF2S3Xp22.11100%gene with protein product300161EIF2GAggressive behavior; Agitation; Babinski sign; Broad nasal tip; Cleft lip; Cleft palate; Cryptorchidism; Delayed puberty; Delayed speech and language development; Depressed nasal tip; Difficulty walking; Downturned corners of mouth; Drooling; EEG abnormality; Full cheeks; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hyperreflexia; Hypertonia; Hypoglycemia; Hypogonadism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Intellectual disability, severe; Large earlobe; Long face; Long philtrum; Macrotia; Microcephaly; Micropenis; Muscular hypotonia; Myopia; Nystagmus; Obesity; Open mouth; Poor speech; Round face; Seizures; Severe global developmental delay; Short stature; Sloping forehead; Spastic tetraparesis; Strabismus; Talipes equinovarus; Tall chin; Tapered finger; Thick vermilion border; Variable expressivity; Ventriculomegaly; Widely spaced teeth; X-linked recessive inheritanceObesity
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
GPT216q11.2100%gene with protein product138210Absent speech; Autosomal recessive inheritance; Drooling; Dysarthria; Encephalopathy; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Intellectual disability; Postnatal microcephaly; Progressive
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
NRXN12p16.399.82%gene with protein product600565Autosomal recessive inheritance; Constipation; Drooling; Epileptic encephalopathy; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Hyperventilation; Intellectual disability, severe; Protruding tongue; Pulmonic stenosis; Scoliosis; Strabismus; Wide mouth
PAK3Xq2398.65%gene with protein product300142MRX30, MRX47Aggressive behavior; Agitation; Anteverted nares; Anxiety; Delayed gross motor development; Delayed speech and language development; Drooling; Flat face; High palate; Hyperactivity; Intellectual disability; Macrotia; Microcephaly; Open mouth; Psychosis; Seizures; Short attention span; Short nose; Thin upper lip vermilion; Variable expressivity; X-linked recessive inheritance
PDE10A6q2798.98%gene with protein product610652Abnormality of the striatum; Autosomal dominant inheritance; Autosomal recessive inheritance; Chorea; Drooling; Dysarthria; Dyskinesia; Frequent falls; Hyperkinesis; Infantile onset; Intellectual disability; Mental deterioration; Motor delay; Muscular hypotonia of the trunk; Nonprogressive; Orofacial dyskinesia; Parkinsonism; Seizures; Unsteady gait
POLR3A10q22.399.98%gene with protein product614258Abnormal upper motor neuron morphology; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; CNS hypomyelination; Delayed puberty; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Leukodystrophy; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Progressive; Short stature; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
PRPS1Xq22.399.96%gene with protein product311850DFN2Abnormal nerve conduction velocity; Absent speech; Areflexia; Areflexia of lower limbs; Ataxia; Childhood onset; Death in infancy; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Drooling; Dysphagia; Gait disturbance; Generalized hypotonia; Global developmental delay; Gout; Growth delay; Hearing impairment; Hyperuricosuria; Immunodeficiency; Impaired pain sensation; Intellectual disability; Motor delay; Muscle mounding; Muscle weakness; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Onion bulb formation; Optic atrophy; Peripheral neuropathy; Pes cavus; Polyneuropathy; Progressive muscle weakness; Progressive visual loss; Recurrent infections; Recurrent upper respiratory tract infections; Renal insufficiency; Respiratory insufficiency; Segmental peripheral demyelination/remyelination; Seizures; Sensorineural hearing impairment; Sensory neuropathy; Skeletal muscle hypertrophy; Spinal cord posterior columns myelin loss; Tetraplegia; Uric acid nephrolithiasis; Variable expressivity; Visual impairment; Visual loss; X-linked recessive inheritance
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SPART13q13.3100%gene with protein product607111SPG20Ankle clonus; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Camptodactyly; Cerebellar atrophy; Childhood onset; Clinodactyly; Difficulty walking; Distal amyotrophy; Drooling; Dysarthria; Dysmetria; Emotional lability; Global developmental delay; Hammertoe; Hyperextensible hand joints; Hyperplasia of midface; Hyperreflexia; Hypertelorism; Intellectual disability, mild; Knee clonus; Kyphoscoliosis; Lower limb muscle weakness; Motor delay; Pes cavus; Short foot; Short stature; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis
TUBB2B6p25.291.67%gene with protein product612850Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral palsy; Drooling; Frontoparietal cortical dysplasia; Gait disturbance; Global developmental delay; Hemiparesis; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lissencephaly; Microcephaly; Motor delay; Muscular hypotonia; Pachygyria; Seizures; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Unilateral polymicrogyria; Variable expressivity
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
VAC1416q22.1-q22.100%gene with protein product604632TAX1BP2Abnormal pelvis bone morphology; Abnormality of dental structure; Abnormality of the occipital bone; Abnormality of the parietal bone; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Anteverted nares; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Arrhinencephaly; Autosomal recessive inheritance; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Craniofacial dystonia; Decreased skull ossification; Delayed speech and language development; Developmental regression; Dolichocephaly; Drooling; Dysphagia; Generalized neonatal hypotonia; Global developmental delay; High forehead; High, narrow palate; Hyperreflexia; Hypertelorism; Hypertonia; Hypoplasia of the frontal lobes; Hypospadias; Loss of ability to walk; Low-set ears; Metatarsus adductus; Micrognathia; Micropenis; Neuronal loss in central nervous system; Pachygyria; Postnatal growth retardation; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Redundant neck skin; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Short chin; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Syndactyly; Tapered finger; Thin vermilion border; Unsteady gait; Upslanted palpebral fissure; Ventricular septal defect; Wide cranial sutures
VPS13A9q21.299.95%gene with protein product605978CHACAbnormal bleeding; Abnormal urinary color; Abnormality of vision; Acanthocytosis; Aggressive behavior; Anxiety; Areflexia; Ataxia; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Caudate atrophy; Cerebral cortical atrophy; Chorea; Death in early adulthood; Developmental regression; Difficulty in tongue movements; Disinhibition; Distal upper limb muscle weakness; Drooling; Dysarthria; Dysgraphia; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG abnormality; Fatigue; Gait disturbance; Hyporeflexia; Limb muscle weakness; Memory impairment; Mood changes; Muscle fiber atrophy; Muscular hypotonia; Myopathy; Orofacial dyskinesia; Pallor; Parkinsonism; Peripheral neuropathy; Personality changes; Pes cavus; Progressive; Progressive choreoathetosis; Progressive distal muscular atrophy; Protruding tongue; Psychosis; Seizures; Self-mutilation of tongue and lips due to involuntary movements; Sensory neuropathy; Skeletal muscle atrophy; Tics; Tremor; Ventriculomegaly
ZEB22q22.3100%gene with protein product605802ZFHX1BAbdominal distention; Abnormality of metabolism/homeostasis; Abnormality of the abdominal wall; Abnormality of the rib cage; Absent speech; Atrial septal defect; Autosomal dominant inheritance; Broad eyebrow; Delayed eruption of teeth; Drooling; Generalized hypotonia; Happy demeanor; Hypoplasia of the corpus callosum; Intellectual disability, moderate; Motor delay; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pulmonary artery sling; Pulmonary artery stenosis; Pulmonic stenosis; Supernumerary nipple; Ventricular septal defect; Vomiting; Widely spaced teeth


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