XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Depressed nasal tip

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ACTG117q25.3100%gene with protein product102560ACTG, DFNA20, DFNA26Abnormality of the pinna; Aphasia; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Cerebral cortical hemiatrophy; Coarse facial features; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Failure to thrive; Feeding difficulties; Full cheeks; Global developmental delay; Growth delay; Heterochromia iridis; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypertelorism; Intellectual disability; Iris coloboma; Joint stiffness; Large fontanelles; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Macrogyria; Microcephaly; Micrognathia; Mutism; Osteochondrosis; Pachygyria; Pointed chin; Polymicrogyria; Progressive sensorineural hearing impairment; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Seizures; Short columella; Short neck; Skeletal dysplasia; Specific learning disability; Subcortical cerebral atrophy; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose; Young adult onset
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
COLEC112p25.3100%gene with protein product612502Abnormal anterior chamber morphology; Abnormal vertebral morphology; Autosomal recessive inheritance; Bilateral cryptorchidism; Blepharophimosis; Broad forehead; Broad philtrum; Caudal appendage; Cleft palate; Cleft upper lip; Craniosynostosis; Cryptorchidism; Depressed nasal tip; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hip dislocation; Hyperlordosis; Hypertelorism; Hypoplasia of the musculature; Intellectual disability; Joint hypermobility; Large fleshy ears; Limited elbow movement; Limited pronation/supination of forearm; Oral cleft; Partial abdominal muscle agenesis; Postnatal growth retardation; Prominence of the premaxilla; Prominent nasal bridge; Ptosis; Radioulnar synostosis; Scoliosis; Spina bifida occulta; Strabismus; Supernumerary nipple; Telecanthus; Torticollis; Wide nasal bridge
DOK74p16.399.82%gene with protein product610285C4orf25Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the immune system; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Bulbar palsy; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Distal amyotrophy; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fatigable weakness; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Juvenile onset; Long philtrum; Micrognathia; Mildly elevated creatine phosphokinase; Multiple joint contractures; Muscle cramps; Narrow mouth; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Proximal amyotrophy; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand; Waddling gait
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
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
EXT211p11.2100%gene with protein product608210Abnormality of femur morphology; Abnormality of the dentition; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brachycephaly; Broad nasal tip; Cervical myelopathy; Chondrosarcoma; Coarse facial features; Constipation; Coxa vara; Cranial nerve paralysis; Cryptorchidism; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Global developmental delay; Hypertelorism; Hypoplasia of the ulna; Infantile onset; Juvenile onset; Macrocephaly; Madelung deformity; Madelung-like forearm deformities; Micrognathia; Micromelia; Micropenis; Multiple exostoses; Muscle weakness; Nystagmus; Overlapping toe; Parietal foramina; Pelvic bone exostoses; Peripheral nerve compression; Poor speech; Prominent nasal bridge; Protuberances at ends of long bones; Radial bowing; Rib exostoses; Scapular exostoses; Scoliosis; Seizures; Short metacarpal; Short philtrum; Short stature; Strabismus; Underdeveloped nasal alae; Ventricular septal defect
ICK6p12.1100%gene with protein product612325Abnormality of the pinna; Adrenal hypoplasia; Ambiguous genitalia; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Cleft palate; Cleft upper lip; Cryptorchidism; Depressed nasal tip; Holoprosencephaly; Hydrocephalus; Hypospadias; Low-set ears; Malar flattening; Micrognathia; Micromelia; Micropenis; Microphallus; Midface retrusion; Postaxial polydactyly; Sandal gap; Scrotal hypoplasia; Shield chest; Syndactyly; Ulnar deviation of the hand; Ventriculomegaly; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development
KDM6AXp11.399.9%gene with protein product300128UTXAbnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the breast; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Behavioral abnormality; Blue sclerae; Broad nasal tip; Butterfly vertebrae; Cafe-au-lait spot; Central hypotonia; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Decreased body weight; Dental malocclusion; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Neonatal hypoglycemia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth; X-linked dominant inheritance
KDM6AXp11.399.9%gene with protein product300128UTXAbnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the breast; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Behavioral abnormality; Blue sclerae; Broad nasal tip; Butterfly vertebrae; Cafe-au-lait spot; Central hypotonia; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Decreased body weight; Dental malocclusion; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Neonatal hypoglycemia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth; X-linked dominant inheritance
KMT2D12q13.12100%gene with protein product602113TNRC21, MLL2Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Blue sclerae; Butterfly vertebrae; Cafe-au-lait spot; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth
MUSK9q31.3100%gene with protein product601296Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
MYCN2p24.3100%gene with protein product164840NMYCAccessory spleen; Annular pancreas; Anteverted nares; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Asplenia; Autosomal dominant inheritance; Blepharophimosis; Decreased fetal movement; Depressed nasal tip; Duodenal atresia; Elevated urinary catecholamines; Epicanthus; Esophageal atresia; Everted lower lip vermilion; Facial asymmetry; Hearing impairment; High palate; Intellectual disability; Low-set ears; Microcephaly; Micrognathia; Neoplasm of the nervous system; Patent ductus arteriosus; Polyhydramnios; Polysplenia; Posteriorly rotated ears; Prominent occiput; Short palpebral fissure; Short toe; Small anterior fontanelle; Specific learning disability; Thick vermilion border; Tracheoesophageal fistula; Triangular face; Upslanted palpebral fissure; Vocal cord paralysis; Wide nasal bridgeVACTERL Association
PHF21A11p11.299.86%gene with protein product608325Brachycephaly; Broad nasal tip; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Global developmental delay; Micrognathia; Micropenis; Nystagmus; Parietal foramina; Prominent nasal bridge; Seizures; Short philtrum; Strabismus; Underdeveloped nasal alae
RAPSN11p11.2100%gene with protein product601592Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Congenital onset; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Feeding difficulties; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Long face; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neonatal hypotonia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
TAF1Xq13.199.99%gene with protein product313650TAF2A, BA2R, CCG1, CCGS, DYT3Adult onset; Broad chin; Broad nasal tip; Bulbous nose; Chorea; Congenital onset; Depressed nasal tip; Global developmental delay; Macrotia; Myoclonus; Parkinsonism with favorable response to dopaminergic medication; Prominent protruding coccyx; Proptosis; Protruding ear; Thickened helices; Torsion dystonia; Tremor; X-linked recessive inheritance
TGIF118p11.31100%gene with protein product602630HPE4, TGIFAbsent nasal septal cartilage; Autosomal dominant inheritance; Depressed nasal bridge; Depressed nasal tip; Hypotelorism; Median cleft lip; Median cleft lip and palate; Ptosis; Semilobar holoprosencephaly
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia


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