XomeDxSlice Tool

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Phenotypes
Preaxial polydactyly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
COLEC108q24.12100%gene with protein product607620Abnormal anterior chamber morphology; Abnormality of the pinna; Autosomal recessive inheritance; Bifid scrotum; Bilateral cryptorchidism; Blepharophimosis; Cleft palate; Cleft upper lip; Clinodactyly; Craniosynostosis; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Facial cleft; Hearing impairment; Highly arched eyebrow; Hyperlordosis; Hypertelorism; Intellectual disability; Large fleshy ears; Limited pronation/supination of forearm; Micropenis; Oral cleft; Penoscrotal hypospadias; Postnatal growth retardation; Preaxial polydactyly; Ptosis; Radioulnar synostosis; Scoliosis; Short stature; Spina bifida occulta; Supernumerary nipple; Telecanthus
FGF105p12100%gene with protein product6021152-3 finger syndactyly; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Alacrima; Aplasia of the parotid gland; Autosomal dominant inheritance; Bilateral triphalangeal thumbs; Broad forehead; Broad hallux; Carious teeth; Clinodactyly of the 5th finger; Conical incisor; Corneal perforation; Coronal hypospadias; Cupped ear; Dacryocystitis; Delayed eruption of primary teeth; Downslanted palpebral fissures; Hyperextensible skin; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic lacrimal duct; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Mixed hearing impairment; Nasolacrimal duct obstruction; Nephrosclerosis; Partial duplication of thumb phalanx; Periorbital fullness; Preaxial polydactyly; Radial deviation of the 3rd finger; Recurrent corneal erosions; Renal agenesis; Small thenar eminence; Telecanthus; Xerostomia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
HOXD132q31.1100%gene with protein product142989HOX4I, SPD2-3 toe syndactyly; 2nd-5th toe middle phalangeal hypoplasia; 3-4 finger syndactyly; 3-4 toe syndactyly; 4-5 toe syndactyly; 6 metacarpals; Abnormal cardiac septum morphology; Abnormal vertebral morphology; Abnormality of the nasopharynx; Abnormality of the ribs; Abnormality of the sternum; Absent distal interphalangeal creases; Absent radius; Anal atresia; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Brachydactyly; Broad distal phalanx of the hallux; Broad distal phalanx of the thumb; Broad hallux; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Choanal atresia; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Contracture of the proximal interphalangeal joint of the 5th finger; Cutaneous finger syndactyly; Ectopic kidney; Enlarged proximal interphalangeal joints; Esophageal atresia; Failure to thrive; Finger syndactyly; Fused fourth and fifth metacarpals; Hallux valgus; Hydronephrosis; Hypoplasia of the radius; Hypospadias; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Large fontanelles; Laryngeal stenosis; Laryngomalacia; Mesoaxial hand polydactyly; Metacarpal synostosis; Metatarsal synostosis; Moderately short stature; Multiple impacted teeth; Occipital encephalocele; Oligodactyly; Patent ductus arteriosus; Patent urachus; Polyhydramnios; Postaxial foot polydactyly; Postnatal growth retardation; Preaxial polydactyly; Premature birth; Radioulnar synostosis; Renal agenesis; Renal dysplasia; Round face; Scoliosis; Short 5th metacarpal; Short clavicles; Short distal phalanx of finger; Short fifth metatarsal; Short metacarpal; Short metatarsal; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short stature; Short thumb; Single umbilical artery; Spina bifida; Sporadic; Straight clavicles; Symphalangism affecting the phalanges of the hand; Syndactyly; Tethered cord; Tetralogy of Fallot; Toe syndactyly; Tracheal stenosis; Tracheoesophageal fistula; Transposition of the great arteries; Triphalangeal thumb; Type D brachydactyly; Type E brachydactyly; Ulnar deviation of finger; Ureteropelvic junction obstruction; Ventricular septal defect; Vertebral segmentation defect; Vesicoureteral reflux; Y-shaped metacarpalsHeterotaxy ; VACTERL Association
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
MEGF819q13.299.85%gene with protein product604267EGFL4, C19orf49Abnormal cornea morphology; Anteverted nares; Aplasia of the middle phalanx of the hand; Autosomal recessive inheritance; Brachydactyly; Broad thumb; Camptodactyly; Cloverleaf skull; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Cutis laxa; Depressed nasal bridge; Epicanthus; External genital hypoplasia; Finger syndactyly; Genu valgum; Global developmental delay; High palate; Highly arched eyebrow; Hypertelorism; Hypoplastic nipples; Intellectual disability; Low-set ears; Midface retrusion; Narrow palate; Obesity; Oxycephaly; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Short neck; Sparse and thin eyebrow; Supernumerary nipple; Talipes equinovarus; Toe syndactyly; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridgeHeterotaxy ; Obesity
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
WDR607q36.3100%gene with protein product615462Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Acetabular spurs; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Failure to thrive; Femoral bowing; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Pancreatic fibrosis; Polyhydramnios; Postaxial hand polydactyly; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Renal hypoplasia; Respiratory insufficiency; Short foot; Short long bone; Short palm; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Syndactyly; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Ventricular septal defect; Wide noseDisorders of Sex Development; Short-Rib Thoracic Dysplasia
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly


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