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
Sparse pubic hair

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
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
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
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
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
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
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
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
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
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
HLA-DRA6p21.32100%gene with protein productXomeDxSlice is not appropriate.142860HLA-DRA1Alopecia; Lichenification; Perifollicular hyperkeratosis; Pruritus; Sparse axillary hair; Sparse pubic hair; Sparse scalp hair
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
LHB19q13.3100%gene with protein product152780Abnormal spermatogenesis; Abnormality of metabolism/homeostasis; Abnormality of the Leydig cells; Androgen insufficiency; Autosomal recessive inheritance; Decreased circulating luteinizing hormone level; Decreased serum testosterone level; Gynecomastia; Hypogonadotrophic hypogonadism; Micropenis; Ovarian cyst; Secondary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular microlithiasisDisorders of Sex Development
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
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
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
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
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
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
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
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
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
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
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