XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Mandibular aplasia

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
CDC617q21.299.92%gene with protein product602627CDC18LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High, narrow palate; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Irregular femoral epiphysis; Joint hyperflexibility; Long philtrum; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Mild global developmental delay; Motor delay; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent metopic ridge; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Small earlobe; Triangular faceHeterotaxy
CDT116q24.3100%gene with protein product605525Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Emphysema; Failure to thrive; Feeding difficulties; Genu recurvatum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Lateral clavicle hook; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Thick lower lip vermilion
CHUK10q24.3199.92%gene with protein product600664TCF16Absent external genitalia; Anotia; Aplasia of the sweat glands; Autosomal recessive inheritance; Lower limb undergrowth; Mandibular aplasia; Microcephaly; Omphalocele; Protruding tongue; Thin skin; Upper limb undergrowthEctodermal Dysplasia
COX7BXq21.1100%gene with protein product300885Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Anophthalmia; Aplasia cutis congenita; Arrhythmia; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Global developmental delay; Hyperpigmentation of the skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Mandibular aplasia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Retrognathia; Sclerocornea; Severe short stature; Short chin; Short stature; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
FAM20C7p22.3100%gene with protein product611061Anteverted nares; Autosomal recessive inheritance; Brachyturricephaly; Cerebral calcification; Choanal atresia; Choanal stenosis; Cleft palate; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Elevated alkaline phosphatase; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; High palate; Hypertelorism; Hypophosphatemia; Increased bone mineral density; Intrauterine growth retardation; Large fontanelles; Low-set ears; Malar flattening; Mandibular aplasia; Median cleft lip and palate; Microcephaly; Micrognathia; Midface retrusion; Narrow mouth; Neonatal death; Posteriorly rotated ears; Proptosis; Protruding tongue; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Short neck; Short nose; Short stature; Thoracic hypoplasia
GMNN6p22.397.96%gene with protein product602842Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal dominant inheritance; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Conductive hearing impairment; Craniosynostosis; Cryptorchidism; Delayed puberty; Delayed skeletal maturation; Depressed nasal ridge; Failure to thrive; Feeding difficulties; Growth hormone deficiency; High, narrow palate; Hip dysplasia; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Recurrent respiratory infections; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Short middle phalanx of finger; Slender long bone; Stenosis of the external auditory canal; Umbilical hernia
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
NDUFB11Xp11.399.85%gene with protein product300403Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Agenesis of corpus callosum; Anophthalmia; Arrhythmia; Cardiac arrest; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Dilation of lateral ventricles; Erythema; Failure to thrive; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Lacrimal duct atresia; Mandibular aplasia; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia of the trunk; Myopia; Nystagmus; Retrognathia; Sclerocornea; Seizures; Severe short stature; Strabismus; Ventricular fibrillation; Ventricular tachycardia; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
ORC42q23.199.23%gene with protein product603056ORC4LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dolichocephaly; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High pitched voice; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Smooth philtrum; Tracheomalacia; Underdeveloped nasal alae
ORC616q11.2100%gene with protein product607213ORC6LAbnormality of epiphysis morphology; Abnormality of the ribs; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Coxa vara; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Downslanted palpebral fissures; Dyspnea; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Genu varum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Laryngomalacia; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microretrognathia; Microtia; Microtia, third degree; Narrow chest; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent nasal bridge; Recurrent pneumonia; Respiratory distress; Respiratory failure; Retrognathia; Scrotal hypoplasia; Severe short stature; Short ribs; Short thorax; Slender long bone; Talipes equinovarus; Thick lower lip vermilion; Tracheomalacia; Triangular face
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy


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