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
Primary amenorrhea

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
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
AXL19q13.2100%gene with protein product109135Autosomal dominant inheritance; Autosomal recessive inheritance; Cryptorchidism; Decreased testicular size; Gynecomastia; Hypogonadotrophic hypogonadism; Micropenis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair
BMP15Xp11.22100%gene with protein product300247Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal dominant inheritance; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Gonadal dysgenesis; Gonadal hypoplasia; Hirsutism; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Increased circulating gonadotropin level; Osteopenia; Osteoporosis of vertebrae; Premature ovarian insufficiency; Primary amenorrhea; Secondary amenorrhea; Sparse pubic hair; Streak ovary
BMP15Xp11.22100%gene with protein product300247Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal dominant inheritance; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Gonadal dysgenesis; Gonadal hypoplasia; Hirsutism; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Increased circulating gonadotropin level; Osteopenia; Osteoporosis of vertebrae; Premature ovarian insufficiency; Primary amenorrhea; Secondary amenorrhea; Sparse pubic hair; Streak ovary
BMPR1B4q22.3100%gene with protein product6032482-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia of the middle phalanges of the toes; Aplasia of the proximal phalanges of the hand; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad foot; Broad hallux; Carpal synostosis; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Cone-shaped epiphysis; Delayed speech and language development; Disproportionate short-limb short stature; Fibular aplasia; Fibular hypoplasia; Hallux valgus; Hypergonadotropic hypogonadism; Hypoplasia of the ulna; Hypoplasia of the uterus; Joint stiffness; Limitation of joint mobility; Medially deviated second toe; Micromelia; Narrow nasal bridge; Poor motor coordination; Postaxial hand polydactyly; Primary amenorrhea; Pseudoepiphyses of the 2nd finger; Radial deviation of finger; Radial deviation of the 2nd finger; Sarcoma; Short 2nd finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the thumb; Short femoral neck; Short finger; Short foot; Short hallux; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short proximal phalanx of finger; Short proximal phalanx of thumb; Short stature; Short thumb; Short tibia; Short toe; Skeletal dysplasia; Stippling of the epiphysis of the distal phalanx of the thumb; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Widened proximal tibial metaphyses
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
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
CLPP19p13.3100%gene with protein product601119Autosomal recessive inheritance; Congenital sensorineural hearing impairment; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Microcephaly; Primary amenorrhea; Sensorineural hearing impairment
CYB5A18q22.3100%gene with protein product613218CYB5Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Absence of secondary sex characteristics; Autosomal recessive inheritance; Cryptorchidism; Cyanosis; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Infantile onset; Male pseudohermaphroditism; Methemoglobinemia; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP17A110q24.3299.32%gene with protein product609300CYP17Abnormal circulating aldosterone; Abnormal EKG; Abnormality of creatine metabolism; Absence of secondary sex characteristics; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Aortic root aneurysm; Autosomal recessive inheritance; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Generalized hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hypergonadotropic hypogonadism; Hypertension; Hypervolemia; Hypokalemia; Hypokalemic alkalosis; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Increased circulating ACTH level; Male pseudohermaphroditism; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP17A110q24.3299.32%gene with protein product609300CYP17Abnormal circulating aldosterone; Abnormal EKG; Abnormality of creatine metabolism; Absence of secondary sex characteristics; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Aortic root aneurysm; Autosomal recessive inheritance; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Generalized hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hypergonadotropic hypogonadism; Hypertension; Hypervolemia; Hypokalemia; Hypokalemic alkalosis; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Increased circulating ACTH level; Male pseudohermaphroditism; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP17A110q24.3299.32%gene with protein product609300CYP17Abnormal circulating aldosterone; Abnormal EKG; Abnormality of creatine metabolism; Absence of secondary sex characteristics; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Aortic root aneurysm; Autosomal recessive inheritance; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Generalized hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hypergonadotropic hypogonadism; Hypertension; Hypervolemia; Hypokalemia; Hypokalemic alkalosis; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Increased circulating ACTH level; Male pseudohermaphroditism; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP19A115q21.299.68%gene with protein product107910CYP19Acanthosis nigricans; Accelerated skeletal maturation; Ambiguous genitalia, female; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Cryptorchidism; Delayed epiphyseal ossification; Delayed skeletal maturation; Enlarged polycystic ovaries; Eunuchoid habitus; Female infertility; Female pseudohermaphroditism; Generalized hirsutism; Genu valgum; Growth delay; Gynecomastia; Hepatic steatosis; Hypergonadotropic hypogonadism; Hyperlipidemia; Insulin resistance; Macroorchidism, postpubertal; Male infertility; Maternal virilization in pregnancy; Obesity; Osteopenia; Osteoporosis; Ovarian cyst; Primary amenorrhea; Short stature; Tall stature; Type II diabetes mellitusDisorders of Sex Development
CYP19A115q21.299.68%gene with protein product107910CYP19Acanthosis nigricans; Accelerated skeletal maturation; Ambiguous genitalia, female; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Cryptorchidism; Delayed epiphyseal ossification; Delayed skeletal maturation; Enlarged polycystic ovaries; Eunuchoid habitus; Female infertility; Female pseudohermaphroditism; Generalized hirsutism; Genu valgum; Growth delay; Gynecomastia; Hepatic steatosis; Hypergonadotropic hypogonadism; Hyperlipidemia; Insulin resistance; Macroorchidism, postpubertal; Male infertility; Maternal virilization in pregnancy; Obesity; Osteopenia; Osteoporosis; Ovarian cyst; Primary amenorrhea; Short stature; Tall stature; Type II diabetes mellitusDisorders of Sex Development
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders of Sex Development
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders of Sex Development
DMRT39p24.3100%gene with protein product614754DMRTA3Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testis
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
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
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
FSHB11p14.1100%gene with protein product136530Abnormal sperm morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Azoospermia; Bilateral breast hypoplasia; Decreased female libido; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed menarche; Delayed skeletal maturation; Female hypogonadism; Gonadotropin deficiency; Hyperplasia of the Leydig cells; Hypogonadotrophic hypogonadism; Infertility; Male hypogonadism; Oligomenorrhea; Oligospermia; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular atrophy
FSHB11p14.1100%gene with protein product136530Abnormal sperm morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Azoospermia; Bilateral breast hypoplasia; Decreased female libido; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed menarche; Delayed skeletal maturation; Female hypogonadism; Gonadotropin deficiency; Hyperplasia of the Leydig cells; Hypogonadotrophic hypogonadism; Infertility; Male hypogonadism; Oligomenorrhea; Oligospermia; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular atrophy
FSHR2p16.399.98%gene with protein product136435ODG1Abdominal distention; Abdominal pain; Abnormality of the genitourinary system; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Capillary leak; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Enlarged polycystic ovaries; Gonadal dysgenesis; Hemorrhagic ovarian cyst; Hirsutism; Increased circulating gonadotropin level; Increased serum testosterone level; Nausea; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Pleural effusion; Premature ovarian insufficiency; Primary amenorrhea; Sparse pubic hair; Streak ovary
FSHR2p16.399.98%gene with protein product136435ODG1Abdominal distention; Abdominal pain; Abnormality of the genitourinary system; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Capillary leak; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Enlarged polycystic ovaries; Gonadal dysgenesis; Hemorrhagic ovarian cyst; Hirsutism; Increased circulating gonadotropin level; Increased serum testosterone level; Nausea; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Pleural effusion; Premature ovarian insufficiency; Primary amenorrhea; Sparse pubic hair; Streak ovary
GATA48p23.1100%gene with protein product600576Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Azoospermia; Biparietal narrowing; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged thorax; Epicanthus; External ear malformation; Female external genitalia in individual with 46,XY karyotype; Global developmental delay; Gonadal dysgenesis; Gynecomastia; High forehead; High palate; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Male infertility; Microcephaly; Micrognathia; Micropenis; Microphallus; Osteoporosis; Perineal hypospadias; Poor speech; Preauricular pit; Primary amenorrhea; Primum atrial septal defect; Proptosis; Pulmonary artery stenosis; Seizures; Short neck; Short nose; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tapered finger; Testicular dysgenesis; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testis; Ventricular septal defect; Weight loss; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development; Heterotaxy
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
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
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
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
HSD17B45q23.199.97%gene with protein product601860Abnormal facial shape; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Bile duct proliferation; Calcific stippling; Cerebral dysmyelination; Cholestasis; Corpus callosum atrophy; Cortical dysplasia; Decreased muscle mass; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fetal ascites; Frontal bossing; Gait ataxia; Generalized cerebral atrophy/hypoplasia; Gliosis; Global developmental delay; Gonadal dysgenesis; Hammertoe; Hepatic steatosis; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Increased circulating gonadotropin level; Infantile onset; Large fontanelles; Limited extraocular movements; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Neonatal hypotonia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes cavus; Phenotypic variability; Polyhydramnios; Polymicrogyria; Primary adrenal insufficiency; Primary amenorrhea; Renal cyst; Retrognathia; Scaphocephaly; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Split hand; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Undetectable electroretinogram; Upslanted palpebral fissure; Ventriculomegaly; Visual impairment; Visual loss
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
ITGA810p1399.98%gene with protein product604063Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of the foot; Abnormality of the sacrum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Congenital onset; Depressed nasal ridge; Epicanthus; Fetal polyuria; Hypertelorism; Hypertension; Low-set ears; Nonketotic hypoglycemia; Oligohydramnios; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Retrognathia; Talipes equinovarus; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresiaCongenital Kidney and Urinary Tract (CKUT) Anomalies; Fanconi Anemia
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
LARS23p21.31100%gene with protein product604544Arrhythmia; Autosomal recessive inheritance; Congenital onset; Decreased liver function; EEG abnormality; Hypoplasia of the uterus; Intrauterine growth retardation; Lactic acidosis; Oligohydramnios; Patent ductus arteriosus; Premature ovarian insufficiency; Primary amenorrhea; Progressive hearing impairment; Respiratory insufficiency; Seizures; Sideroblastic anemia; Thrombocytopenia; Ventricular septal defect
LEP7q32.1100%gene with protein product164160OBS, OBAbsence of secondary sex characteristics; Accelerated skeletal maturation; Autosomal recessive inheritance; Decreased proportion of CD4-positive T cells; Decreased serum estradiol; Decreased serum leptin; Decreased T cell activation; Decreased testicular size; Decreased testosterone in males; Gynecomastia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hypertriglyceridemia; Hypogonadism; Hypoplasia of the ovary; Insulin-resistant diabetes mellitus; Micropenis; Obesity; Orthostatic hypotension due to autonomic dysfunction; Pituitary hypothyroidism; Polyphagia; Primary amenorrhea; Recurrent ear infections; Recurrent pneumonia; Recurrent upper respiratory tract infectionsObesity
LEP7q32.1100%gene with protein product164160OBS, OBAbsence of secondary sex characteristics; Accelerated skeletal maturation; Autosomal recessive inheritance; Decreased proportion of CD4-positive T cells; Decreased serum estradiol; Decreased serum leptin; Decreased T cell activation; Decreased testicular size; Decreased testosterone in males; Gynecomastia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hypertriglyceridemia; Hypogonadism; Hypoplasia of the ovary; Insulin-resistant diabetes mellitus; Micropenis; Obesity; Orthostatic hypotension due to autonomic dysfunction; Pituitary hypothyroidism; Polyphagia; Primary amenorrhea; Recurrent ear infections; Recurrent pneumonia; Recurrent upper respiratory tract infectionsObesity
LEPR1p31.399.99%gene with protein productSusceptibility alleles or functional polymorphisms will not be reported.601007Abnormal hypothalamus morphology; Absence of secondary sex characteristics; Accelerated skeletal maturation; Aggressive behavior; Decreased proportion of CD4-positive T cells; Decreased serum estradiol; Decreased serum leptin; Decreased T cell activation; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Emotional lability; Growth hormone deficiency; Gynecomastia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hypertriglyceridemia; Hypoplasia of the ovary; Immune dysregulation; Insulin-resistant diabetes mellitus; Obesity; Orthostatic hypotension due to autonomic dysfunction; Pituitary hypothyroidism; Polyphagia; Primary amenorrhea; Recurrent upper respiratory tract infectionsObesity
MAP3K15q11.2100%gene with protein product600982MEKK1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Chordee; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Male pseudohermaphroditism; Micropenis; Osteoporosis; Polycystic ovaries; Primary amenorrhea; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
MCM820p12.3100%gene with protein product608187C20orf154Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Hypoplasia of the ovary; Hypothyroidism; Premature ovarian insufficiency; Primary amenorrhea
MCM96q22.31100%gene with protein product610098MCMDC1, C6orf61Autosomal recessive inheritance; Decreased body weight; Delayed skeletal maturation; Primary amenorrhea; Short stature
NIN14q22.197.5%gene with protein product608684Autosomal recessive inheritance; Central hypothyroidism; Delayed skeletal maturation; Hip dysplasia; Hypoplasia of the uterus; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Lumbar scoliosis; Madelung deformity; Microcephaly; Microtia; Primary amenorrhea; Prominent nose; Seizures; Severe global developmental delay; Severe short stature
NR0B1Xp21.299.98%gene with protein product300473AHC, DSSAbnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Absence of pubertal development; Adrenal hypoplasia; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Dehydration; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Hyponatremia; Hypoplasia of the vagina; Hypospadias; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscular dystrophy; Oligospermia; Osteoporosis; Polycystic ovaries; Precocious puberty; Primary amenorrhea; Renal salt wasting; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testis; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development
NR5A19q33.3100%gene with protein product184757FTZF1Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Ambiguous genitalia; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Azoospermia; Bifid scrotum; Clitoral hypertrophy; Cryptorchidism; Cryptozoospermia; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Non-obstructive azoospermia; Obstructive azoospermia; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Penoscrotal hypospadias; Polycystic ovaries; Premature ovarian insufficiency; Primary amenorrhea; Scrotal hypoplasia; Secondary amenorrhea; Sex reversal; Sex-limited autosomal dominant; Sparse axillary hair; Sparse pubic hair; Streak ovary; Streaky metaphyseal sclerosis; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development; Male Infertility
NR5A19q33.3100%gene with protein product184757FTZF1Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Ambiguous genitalia; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Azoospermia; Bifid scrotum; Clitoral hypertrophy; Cryptorchidism; Cryptozoospermia; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Non-obstructive azoospermia; Obstructive azoospermia; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Penoscrotal hypospadias; Polycystic ovaries; Premature ovarian insufficiency; Primary amenorrhea; Scrotal hypoplasia; Secondary amenorrhea; Sex reversal; Sex-limited autosomal dominant; Sparse axillary hair; Sparse pubic hair; Streak ovary; Streaky metaphyseal sclerosis; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development; Male Infertility
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
NUP10712q1599.88%gene with protein product607617Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Cognitive impairment; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; EEG abnormality; Global developmental delay; Gonadal dysgenesis; Hiatus hernia; Hypoalbuminemia; Hypoplasia of the ear cartilage; Increased circulating gonadotropin level; Intrauterine growth retardation; Macrotia; Microcephaly; Minimal change glomerulonephritis; Nephropathy; Nephrotic syndrome; Osteopenia; Osteoporosis of vertebrae; Pachygyria; Premature birth; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Proteinuria; Seizures; Short stature; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Variable expressivityNephrotic Syndrome
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
POF1BXq21.199.63%gene with protein product300603Abnormality of the dentition; Delayed puberty; Osteoporosis; Premature ovarian insufficiency; Primary amenorrhea; Tall stature; X-linked recessive inheritance
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
PPARG3p25.2100%gene with protein product601487Abnormality of skin pigmentation; Abnormality of the face; Abnormality of the musculature; Abnormality of the neck; Acanthosis nigricans; Accelerated skeletal maturation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Decreased circulating high-density lipoprotein levels; Decreased resting energy expenditure; Diabetes mellitus; Generalized hirsutism; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hirsutism; Hyperglycemia; Hyperhidrosis; Hyperinsulinemia; Hypertension; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hyperuricemia; Increased carotid artery intimal medial thickness; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Large hands; Lipoatrophy; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Mandibular prognathia; Marked muscular hypertrophy; Maternal diabetes; Obesity; Oligomenorrhea; Phenotypic variability; Polygenic inheritance; Precocious puberty; Preeclampsia; Primary amenorrhea; Prominent superficial veins; Prominent supraorbital ridges; Reduced subcutaneous adipose tissue; Secondary amenorrhea; Skeletal muscle hypertrophy; Thin skin; Xanthomatosis
PPP1R3A7q31.199.57%gene with protein product600917PPP1R3Abnormality of the face; Abnormality of the musculature; Abnormality of the neck; Acanthosis nigricans; Autosomal dominant inheritance; Cirrhosis; Decreased circulating high-density lipoprotein levels; Hepatic steatosis; Hirsutism; Hyperglycemia; Hyperinsulinemia; Hypertension; Hypertriglyceridemia; Hyperuricemia; Insulin resistance; Insulin-resistant diabetes mellitus; Late onset; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Maternal diabetes; Oligomenorrhea; Preeclampsia; Primary amenorrhea; Prominent superficial veins; Reduced subcutaneous adipose tissue; Type II diabetes mellitus
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
PSMC3IP17q21.299.86%gene with protein product608665Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Gonadal dysgenesis; Increased circulating gonadotropin level; Osteopenia; Osteoporosis of vertebrae; Premature ovarian insufficiency; Primary amenorrhea; Sparse pubic hair; Streak ovary
PSMC3IP17q21.299.86%gene with protein product608665Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Gonadal dysgenesis; Increased circulating gonadotropin level; Osteopenia; Osteoporosis of vertebrae; Premature ovarian insufficiency; Primary amenorrhea; Sparse pubic hair; Streak ovary
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
SMCHD118p11.3299.84%gene with protein productXomeDxSlice is not an appropriate test to evaluate for SMCHD1 variation associated with facioscapulohumeral muscular dystrophy (FSHD) unless southern blot (for FSHD1) and/or methylation studies) have already been performed elsewhere.614982Abdominal wall muscle weakness; Abnormality of the eyelashes; Abnormality of the midface; Abnormality of the retinal vasculature; Absent nares; Amblyopia; Anophthalmia; Anosmia; Aplasia of the nose; Autosomal dominant inheritance; Blindness; Cataract; Choanal atresia; Cleft palate; Coloboma; Cryptorchidism; Digenic inheritance; Elevated serum creatine phosphokinase; EMG abnormality; Facial palsy; Failure of eruption of permanent teeth; Foot dorsiflexor weakness; Gynecomastia; High palate; Hyperlordosis; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the olfactory bulb; Hyposmia; Inguinal hernia; Iris coloboma; Mask-like facies; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Palpebral edema; Pelvic girdle muscle weakness; Primary amenorrhea; Scapulohumeral muscular dystrophy; Sensorineural hearing impairment; Single naris; Skeletal muscle atrophy; Visual loss
SOX917q24.3100%gene with protein product608160CMD1, CMPD111 pairs of ribs; Abnormal heart morphology; Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the pharynx; Abnormality of the scrotum; Abnormality of the uterus; Absent sternal ossification; Ambiguous genitalia; Anterior tibial bowing; Apnea; Autosomal dominant inheritance; Azoospermia; Bifid scrotum; Blepharophimosis; Cleft palate; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-limb short stature; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Femoral bowing; Fibular hypoplasia; Flat face; Generalized hypotonia; Glossoptosis; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hearing impairment; High forehead; Hip dislocation; Hydrocephalus; Hydronephrosis; Hypergonadotropic hypogonadism; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypoplastic cervical vertebrae; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Hypospadias; Kyphoscoliosis; Laryngomalacia; Low-set ears; Macrocephaly; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micrognathia; Micropenis; Narrow chest; Neonatal respiratory distress; Neonatal short-limb short stature; Osteoporosis; Polycystic ovaries; Polyhydramnios; Poorly ossified cervical vertebrae; Primary amenorrhea; Proptosis; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Scrotal hypoplasia; Sex reversal; Short neck; Short palpebral fissure; Short stature; Shortening of all phalanges of fingers; Shortening of all phalanges of the toes; Skin dimples; Small abnormally formed scapulae; Small face; Sparse axillary hair; Sparse pubic hair; Streak ovary; Talipes equinovarus; Testicular dysgenesis; Thin ribs; Thoracic hypoplasia; Tibial bowing; Tracheobronchomalacia; True hermaphroditism; Upper airway obstruction; Urogenital sinus anomaly; Vanishing testis; Wide anterior fontanelDisorders of Sex Development; Short-Rib Thoracic Dysplasia
SPIDR8q11.2182.1%gene with protein product615384KIAA0146Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; Gonadal dysgenesis; Increased circulating gonadotropin level; Osteopenia; Osteoporosis of vertebrae; Premature ovarian insufficiency; Primary amenorrhea; Sparse pubic hair; Streak ovary
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
SRA15q31.3100%gene with protein product603819Autosomal dominant inheritance; Autosomal recessive inheritance; Cryptorchidism; Decreased testicular size; Gynecomastia; Hypogonadotrophic hypogonadism; Micropenis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair
SRYYp11.241%gene with protein product480000Abnormal scrotal rugation; Abnormal sex determination; Abnormality of female external genitalia; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Absence of secondary sex characteristics; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Azoospermia; Bifid scrotum; Bilateral cryptorchidism; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscle hypertrophy of the lower extremities; Osteoporosis; Penoscrotal hypospadias; Polycystic ovaries; Primary amenorrhea; Scrotal hypoplasia; Sex reversal; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tall stature; Testicular dysgenesis; True hermaphroditism; Unilateral cryptorchidism; Urogenital sinus anomaly; Vanishing testis; Y-linked inheritanceDisorders of Sex Development
SRYYp11.241%gene with protein product480000Abnormal scrotal rugation; Abnormal sex determination; Abnormality of female external genitalia; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Absence of secondary sex characteristics; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Azoospermia; Bifid scrotum; Bilateral cryptorchidism; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscle hypertrophy of the lower extremities; Osteoporosis; Penoscrotal hypospadias; Polycystic ovaries; Primary amenorrhea; Scrotal hypoplasia; Sex reversal; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tall stature; Testicular dysgenesis; True hermaphroditism; Unilateral cryptorchidism; Urogenital sinus anomaly; Vanishing testis; Y-linked inheritanceDisorders of Sex Development
STAG37q22.1100%gene with protein product608489Autosomal recessive inheritance; Increased circulating gonadotropin level; Premature ovarian insufficiency; Primary amenorrhea
SYCE110q26.3100%gene with protein product611486C10orf94Autosomal recessive inheritance; Decreased testicular size; Increased circulating gonadotropin level; Macular dystrophy; Microphthalmia; Non-obstructive azoospermia; Obstructive azoospermia; Primary amenorrheaMale Infertility
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
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
TWNK10q24.31100%gene with protein productFormer name = C10orf2606075IOSCA, C10orf2Abnormality of movement; Abnormality of the autonomic nervous system; Adult onset; Areflexia; Ataxia; Athetosis; Atrophy/Degeneration affecting the brainstem; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Clumsiness; Cognitive impairment; Cytochrome C oxidase-negative muscle fibers; Dementia; Depressivity; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; EMG: myopathic abnormalities; Epilepsia partialis continua; Epileptic encephalopathy; Excessive daytime somnolence; Exercise intolerance; Fatigue; Gait disturbance; Gastroparesis; Generalized hypotonia; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hypergonadotropic hypogonadism; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Intestinal pseudo-obstruction; Limb muscle weakness; Loss of ability to walk; Migraine; Mildly elevated creatine phosphokinase; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscle weakness; Myalgia; Myoclonus; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Poor eye contact; Positive Romberg sign; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Proximal muscle weakness; Psychosis; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorineural hearing impairment; Sensory ataxia; Sensory ataxic neuropathy; Sensory axonal neuropathy; Specific learning disability; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vestibular dysfunction
VAMP7Xq28 and Yq1100%gene with protein product300053SYBL1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
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
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
WNT41p36.1299.98%gene with protein product603490Abnormality of the adrenal glands; Abnormality of the vagina; Acne; Adrenal gland agenesis; Amenorrhea; Aplasia of the uterus; Aplasia of the vagina; Aplasia/Hypoplasia of the fallopian tube; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral lung agenesis; Cleft lip; Cleft palate; Congenital diaphragmatic hernia; Facial hirsutism; Frontal balding; Growth delay; High anterior hairline; Hirsutism; Hypoplasia of the bladder; Hypoplasia of the uterus; Hypospadias; Increased serum testosterone level; Intrauterine growth retardation; Low-set ears; Malrotation of small bowel; Obesity; Oligohydramnios; Oral cleft; Ovotestis; Primary amenorrhea; Pulmonary artery stenosis; Pulmonary hypoplasia; Pulmonic stenosis; Renal agenesis; Sex reversal; Short stature; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome
WWOX16q23.1-q23.100%gene with protein product605131Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the voice; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Cerebellar atrophy; Chest pain; Clinodactyly of the 5th toe; Clitoral hypertrophy; Cough; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysarthria; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Epileptic encephalopathy; Esophageal carcinoma; Feeding difficulties in infancy; Female external genitalia in individual with 46,XY karyotype; Gait ataxia; Gaze-evoked nystagmus; Global developmental delay; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperreflexia; Hypokinesia; Hypoplasia of the vagina; Hyporeflexia; Hypospadias; Intellectual disability; Limb ataxia; Male infertility; Microcephaly; Micropenis; Muscular hypotonia of the trunk; Nausea and vomiting; Osteoporosis; Primary amenorrhea; Progressive microcephaly; Rigidity; Seizures; Sparse axillary hair; Sparse pubic hair; Spasticity; Streak ovary; Urogenital sinus anomaly; Vanishing testis; Variable expressivityDisorders of Sex Development
ZFPM28q23100%gene with protein product603693Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Congenital diaphragmatic hernia; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Fused labia minora; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intrauterine growth retardation; Male infertility; Micropenis; Osteoporosis; Preauricular pit; Primary amenorrhea; Proptosis; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development


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