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
Breast hypoplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANOS1Xp22.3199.48%gene with protein productformer name = KAL1300836KAL, ADMLX, KAL1Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Ataxia; Azoospermia; Bimanual synkinesia; Breast hypoplasia; Cryptorchidism; Decreased circulating follicle stimulating hormone level; Decreased circulating luteinizing hormone level; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; High palate; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Leydig cell insensitivity to gonadotropin; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Olfactory lobe agenesis; Osteopenia; Osteoporosis; Pes cavus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Sparse pubic hair; Testicular atrophy; Unilateral renal agenesis; Wide intermamillary distance; X-linked recessive inheritanceDisorders of Sex Development; Male Infertility
ANOS1Xp22.3199.48%gene with protein productformer name = KAL1300836KAL, ADMLX, KAL1Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Ataxia; Azoospermia; Bimanual synkinesia; Breast hypoplasia; Cryptorchidism; Decreased circulating follicle stimulating hormone level; Decreased circulating luteinizing hormone level; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; High palate; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Leydig cell insensitivity to gonadotropin; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Olfactory lobe agenesis; Osteopenia; Osteoporosis; Pes cavus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Sparse pubic hair; Testicular atrophy; Unilateral renal agenesis; Wide intermamillary distance; X-linked recessive inheritanceDisorders of Sex Development; Male Infertility
ANTXR12p13.398%gene with protein product606410Abnormal form of the vertebral bodies; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral vasculature; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the palate; Alopecia; Anteverted nares; Autosomal recessive inheritance; Breast hypoplasia; Broad forehead; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Early balding; Everted lower lip vermilion; Frontal bossing; Glaucoma; Growth delay; High forehead; Hyperextensible skin; Hypertelorism; Hypoplastic nipples; Hypotrichosis; Joint hyperflexibility; Keratoconus; Long philtrum; Low-set ears; Mandibular prognathia; Micrognathia; Midface retrusion; Nystagmus; Optic atrophy; Palpebral edema; Prematurely aged appearance; Prominent scalp veins; Protruding ear; Short stature; Skin tags; Sparse and thin eyebrow; Sparse eyelashes; Thick lower lip vermilion; Thick nasal alae; Tubulointerstitial fibrosis; Umbilical hernia; Underdeveloped supraorbital ridges; Unerupted tooth; Visual impairment; Wide anterior fontanel
CCDC1412q31.299.99%gene with protein product616031Abnormality of the voice; Anosmia; Anterior hypopituitarism; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Delayed puberty; Erectile abnormalities; Gynecomastia; Hypogonadotrophic hypogonadism; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Micropenis; Primary amenorrhea; Reduced bone mineral density; Sparse axillary hair; Sparse pubic hair
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
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
DUSP612q21.33100%gene with protein product602748Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
DUSP612q21.33100%gene with protein product602748Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
ESR16q25.1-q25.2100%gene with protein product133430ESRAbsence of pubertal development; Absence of secondary sex characteristics; Acanthosis nigricans; Acne; Autosomal recessive inheritance; Breast hypoplasia; Coronary artery atherosclerosis; Delayed epiphyseal ossification; Delayed skeletal maturation; Elevated tissue non-specific alkaline phosphatase; Enlarged polycystic ovaries; Episodic abdominal pain; Glucose intolerance; Hyperinsulinemia; Hypoplasia of the uterus; Increased circulating gonadotropin level; Marked delay in bone age; Osteopenia; Osteoporosis; Overgrowth; Primary amenorrhea
FEZF17q31.32100%gene with protein product613301ZNF312BAbnormality of the voice; Anosmia; Anterior hypopituitarism; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Delayed puberty; Erectile abnormalities; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Micropenis; Primary amenorrhea; Reduced bone mineral density; Sparse axillary hair; Sparse pubic hair
FGF178p21.3100%gene with protein product603725Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
FGF178p21.3100%gene with protein product603725Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
FGF810q24.3299.95%gene with protein product600483Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; High palate; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Small pituitary gland; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
FGF810q24.3299.95%gene with protein product600483Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; High palate; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Small pituitary gland; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FLRT320p12.1100%gene with protein product604808Abnormality of the voice; Anosmia; Anterior hypopituitarism; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Delayed puberty; Erectile abnormalities; Gynecomastia; Hypogonadotrophic hypogonadism; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Micropenis; Primary amenorrhea; Reduced bone mineral density; Sparse axillary hair; Sparse pubic hair
GNRH18p21.299.84%gene with protein product152760GRH, GNRH, LHRHAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distanceDisorders of Sex Development
GNRHR4q13.2100%gene with protein product138850GRHRAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distanceDisorders of Sex Development
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HS6ST12q14.3100%gene with protein product604846HS6STAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distance
HS6ST12q14.3100%gene with protein product604846HS6STAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distance
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
IL17RD3p14.3100%gene with protein product606807Abnormality of the voice; Anosmia; Anterior hypopituitarism; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Delayed puberty; Erectile abnormalities; Gynecomastia; Hypogonadism; Hypogonadotrophic hypogonadism; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Micropenis; Primary amenorrhea; Reduced bone mineral density; Sparse axillary hair; Sparse pubic hair
KISS11q32.199.98%gene with protein product603286Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development; Obesity
KISS1R19p13.399.99%gene with protein product604161GPR54Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Isosexual precocious puberty; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development; Obesity
KISS1R19p13.399.99%gene with protein product604161GPR54Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Isosexual precocious puberty; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development; Obesity
NSMF9q34.3100%gene with protein product608137NELFAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cleft lip; Cleft palate; Clinodactyly; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
NSMF9q34.3100%gene with protein product608137NELFAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cleft lip; Cleft palate; Clinodactyly; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
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
PROK23p13100%gene with protein product607002Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
PROK23p13100%gene with protein product607002Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
PROKR220p12.3100%gene with protein product607123GPR73L1, KAL3Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Agenesis of corpus callosum; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cleft palate; Cleft upper lip; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes planus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Seizures; Septo-optic dysplasia; Short stature; Sparse body hair; Strabismus; Unilateral renal agenesis; Visual impairment; Wide intermamillary distanceDisorders of Sex Development
PROKR220p12.3100%gene with protein product607123GPR73L1, KAL3Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Agenesis of corpus callosum; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cleft palate; Cleft upper lip; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes planus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Seizures; Septo-optic dysplasia; Short stature; Sparse body hair; Strabismus; Unilateral renal agenesis; Visual impairment; Wide intermamillary distanceDisorders of Sex Development
SEMA3A7q21.11100%gene with protein product603961SEMADAbnormality of the voice; Anosmia; Anterior hypopituitarism; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Delayed puberty; Erectile abnormalities; Hypogonadotrophic hypogonadism; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Micropenis; Reduced bone mineral density
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
SPRY45q31.3100%gene with protein product607984Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
SPRY45q31.3100%gene with protein product607984Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
TAC312q13.3100%gene with protein productFormer name = NKB162330NKNB, NKBAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
TACR34q24100%gene with protein product162332Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Microphallus; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
TACR34q24100%gene with protein product162332Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Microphallus; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
TBX312q24.21100%gene with protein product601621UMSAbnormality of temperature regulation; Abnormality of the fingernails; Abnormality of the uterus; Abnormality of the wrist; Absent axillary hair; Absent radius; Anal atresia; Anal stenosis; Anterior pituitary hypoplasia; Aplasia of the ulna; Aplasia/Hypoplasia of the ulna; Autosomal dominant inheritance; Axillary apocrine gland hypoplasia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Deformed radius; Delayed puberty; Ectopic posterior pituitary; Hypodontia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic nipples; Hypoplastic scapulae; Imperforate hymen; Inguinal hernia; Inverted nipples; Micropenis; Obesity; Postaxial hand polydactyly; Pyloric stenosis; Shawl scrotum; Short 4th toe; Short 5th toe; Short clavicles; Short humerus; Short stature; Sparse axillary hair; Sparse lateral eyebrow; Subglottic stenosis; Ventricular septal defectObesity
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
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
TWIST22q37.3100%gene with protein product607556Ablepharon; Abnormal hair pattern; Abnormal nasal morphology; Abnormality of female external genitalia; Abnormality of male external genitalia; Abnormality of the pinna; Abnormality of the sacroiliac joint; Abnormality of the upper urinary tract; Absent eyebrow; Absent eyelashes; Aged leonine appearance; Ambiguous genitalia; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast aplasia; Breast hypoplasia; Bulbous nose; Camptodactyly of finger; Corneal opacity; Cryptophthalmos; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Dermal atrophy; Dimple chin; Distichiasis; Downturned corners of mouth; Dry skin; Ectodermal dysplasia; Ectropion; Epicanthus; Excessive wrinkled skin; Failure to thrive; Fine hair; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hyperextensible skin; Hypertelorism; Hypertrichosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic nipples; Low-set ears; Mandibular prognathia; Microdontia; Microtia; Microtia, third degree; Multiple rows of eyelashes; Myopia; Periorbital fullness; Prematurely aged appearance; Redundant skin; Short philtrum; Sparse and thin eyebrow; Sparse hair; Sparse lateral eyebrow; Sparse lower eyelashes; Sparse or absent eyelashes; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Underdeveloped nasal alae; Ventral hernia; Visual impairment; Wide mouth; Wide nasal bridgeEctodermal Dysplasia
WDR1110q26.1299.99%gene with protein product606417BRWD2Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
WDR1110q26.1299.99%gene with protein product606417BRWD2Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance


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