XomeDxSlice Tool

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

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Phenotypes
Secondary 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
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
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
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
DIAPH2Xq21.3398.94%gene with protein product300108Premature ovarian insufficiency; Secondary amenorrhea; X-linked dominant inheritance
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
EIF2B112q24.31100%gene with protein product606686EIF2BAutosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B214q24.3100%gene with protein product606454Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B31p34.1100%gene with protein product606273Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B42p23.3100%gene with protein product606687Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B53q27.1100%gene with protein product603945Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
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
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
FOXL23q22.399.98%gene with protein product605597BPESAbnormality of the breast; Abnormality of the hair; Amenorrhea; Autosomal dominant inheritance; Blepharophimosis; Cupped ear; Depressed nasal bridge; Epicanthus inversus; Female infertility; High palate; Hypermetropia; Hypoplasia of the uterus; Increased circulating gonadotropin level; Microcornea; Microphthalmia; Nystagmus; Premature ovarian insufficiency; Ptosis; Secondary amenorrhea; Strabismus; Telecanthus; Wide nasal bridgeDisorders 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
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
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
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
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
NOBOX7q3599.62%gene with protein product610934Autosomal dominant inheritance; Premature ovarian insufficiency; Secondary amenorrhea
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
PAPSS210q23.2-q23.100%gene with protein product603005Acne; Autosomal recessive inheritance; Bowing of the legs; Brachydactyly; Hirsutism; Irregular vertebral endplates; Kyphoscoliosis; Lower limb undergrowth; Lumbar scoliosis; Platyspondyly; Premature pubarche; Secondary amenorrhea; Short stature; Spondyloepimetaphyseal dysplasia
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
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
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
SPRY45q31.3100%gene with protein product607984Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
TAC312q13.3100%gene with protein productFormer name = NKB162330NKNB, NKBAbnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
TACR34q24100%gene with protein product162332Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Microphallus; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development
WDR1110q26.1299.99%gene with protein product606417BRWD2Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome