XomeDxSlice Tool

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

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Phenotypes
Depressed nasal ridge

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA122q35100%gene with protein product607800ICR2BAbnormality of abdomen morphology; Abnormality of the helix; Abnormality of the nail; Abnormality of the nervous system; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Depressed nasal ridge; Dry skin; Eclabion; Ectropion; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing abnormality; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Premature birth; Proptosis; Pruritus; Recurrent respiratory infections; Rigidity; Short finger; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
APC219p13.399.99%gene with protein product612034Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Conductive hearing impairment; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Global developmental delay; High forehead; High palate; Hyperactivity; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Macrocephaly; Macrotia; Mandibular prognathia; Muscular hypotonia; Obesity; Poor speech; Precocious puberty; Prominent forehead; Prominent nose; Relative macrocephaly; Tall stature; Ventriculomegaly
ARID1A1p36.11100%gene with protein product603024C1orf4, SMARCF1Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Brachydactyly; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertrichosis; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Macroglossia; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Small nail; Strabismus; Thick eyebrow; Thick lower lip vermilion; Visual impairment; Wide mouth; Wide nasal bridge; Wide nose
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
ARID212q12100%gene with protein product609539Abnormality of cardiovascular system morphology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Wide mouth; Wide nasal bridge
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
B9D219q13.2100%gene with protein product611951Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Occipital encephalocele; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Renal cyst; Sacral dimple; Sclerocornea; Sloping forehead; TalipesHeterotaxy
BMPER7p14.3100%gene with protein product608699Abnormal liver lobulation; Abnormal vertebral segmentation and fusion; Absent in utero ossification of vertebral bodies; Absent in utero rib ossification; Absent or minimally ossified vertebral bodies; Autosomal recessive inheritance; Bell-shaped thorax; Cleft palate; Cystic renal dysplasia; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-trunk short stature; Enlarged kidney; Enlarged thorax; Epicanthus; Generalized hypotonia; Global developmental delay; Hammertoe; Hypertelorism; Hypoplastic fingernail; Increased nuchal translucency; Inguinal hernia; Intrauterine growth retardation; Large fontanelles; Low-set ears; Lumbosacral meningocele; Micrognathia; Missing ribs; Multiple renal cysts; Muscular hypotonia; Myelomeningocele; Narrow pelvis bone; Nephroblastomatosis; Nephrogenic rest; Oligohydramnios; Polymicrogyria; Protuberant abdomen; Pulmonary hypoplasia; Respiratory distress; Respiratory insufficiency; Short neck; Short nose; Short thorax; Talipes equinovarus; Thoracic hypoplasia; Tracheomalacia; Unossified sacrum; Vertebral segmentation defect; Webbed neck
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
COL11A26p21.32100%gene with protein product120290DFNA13, DFNB53Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the eye; Abnormality of the metaphysis; Abnormality of the skin; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Arthralgia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bell-shaped thorax; Brachydactyly; Broad ribs; Bulbous nose; Cleft palate; Conductive hearing impairment; Coronal cleft vertebrae; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Enlarged epiphyses; Enlarged joints; Epiphyseal dysplasia; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture; Global developmental delay; Glossoptosis; Hearing abnormality; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint stiffness; Kyphosis; Large tarsal bones; Long philtrum; Low-set ears; Lumbar hyperlordosis; Malar flattening; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mixed hearing impairment; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow mouth; Osteoarthritis; Pierre-Robin sequence; Platyspondyly; Premature osteoarthritis; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Recurrent pneumonia; Respiratory insufficiency; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short long bone; Short metacarpal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Submucous cleft soft palate; Thoracic hypoplasia; Wide anterior fontanel
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
DZIP1L3q22.3100%gene with protein product617570Biliary tract abnormality; Congenital hepatic fibrosis; Depressed nasal ridge; Hepatic cysts; Hypoplasia of the ear cartilage; Low-set, posteriorly rotated ears; Macrotia; Micrognathia; Multiple renal cysts; Pancreatic cysts; Renal hypoplasia/aplasia; Renal insufficiency; Respiratory insufficiency
EDAXq13.199.08%gene with protein product300451ED1, EDA2, ODT1, EDA1Abnormality of oral mucosa; Absent eyebrow; Absent nipple; Anhidrosis; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Brittle hair; Concave nail; Conical tooth; Delayed eruption of teeth; Depressed nasal bridge; Depressed nasal ridge; Dry skin; Dysphonia; Eczema; Everted lower lip vermilion; Everted upper lip vermilion; Fever; Frontal bossing; Heat intolerance; Heterogeneous; Hoarse voice; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of the maxilla; Hypoplastic nipples; Hypoplastic-absent sebaceous glands; Hypotrichosis; Microdontia; Micrognathia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Prominent supraorbital ridges; Respiratory distress; Short chin; Short nose; Soft skin; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Taurodontia; Thick vermilion border; Thin skin; Underdeveloped nasal alae; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia
EDA2RXq12100%gene with protein product300276Aplasia/Hypoplasia of the eyebrow; Delayed eruption of teeth; Depressed nasal ridge; Everted lower lip vermilion; Everted upper lip vermilion; Frontal bossing; Hypohidrosis; Hypotrichosis; Microdontia; Sparse body hairEctodermal Dysplasia
EFNB1Xq13.1100%gene with protein product300035EPLG2, CFNSAbnormality of the dentition; Abnormality of the rib cage; Axillary pterygia; Bifid nasal tip; Brachycephaly; Brachydactyly; Broad hallux; Broad hallux phalanx; Camptodactyly of finger; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Congenital pseudoarthrosis of the clavicle; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Depressed nasal ridge; Down-sloping shoulders; Downslanted palpebral fissures; Exotropia; Facial asymmetry; Finger syndactyly; Fragile nails; Frontal bossing; Generalized hypotonia; Global developmental delay; Hand polydactyly; Hemihypotrophy of lower limb; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic nasal tip; Hypospadias; Intellectual disability; Joint hyperflexibility; Joint laxity; Low posterior hairline; Microcephaly; Midline defect of the nose; Muscular hypotonia; Nystagmus; Oral cleft; Pectus excavatum; Plagiocephaly; Ridged fingernail; Ridged nail; Sandal gap; Scoliosis; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short stature; Split nail; Sprengel anomaly; Telecanthus; Thickened nuchal skin fold; Toe syndactyly; Umbilical hernia; Unilateral breast hypoplasia; Wide nasal bridge; Woolly hair; X-linked dominant inheritance
FAM20C7p22.3100%gene with protein product611061Anteverted nares; Autosomal recessive inheritance; Brachyturricephaly; Cerebral calcification; Choanal atresia; Choanal stenosis; Cleft palate; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Elevated alkaline phosphatase; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; High palate; Hypertelorism; Hypophosphatemia; Increased bone mineral density; Intrauterine growth retardation; Large fontanelles; Low-set ears; Malar flattening; Mandibular aplasia; Median cleft lip and palate; Microcephaly; Micrognathia; Midface retrusion; Narrow mouth; Neonatal death; Posteriorly rotated ears; Proptosis; Protruding tongue; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Short neck; Short nose; Short stature; Thoracic hypoplasia
FGF208p22100%gene with protein product605558Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of the sacrum; Autosomal recessive inheritance; Depressed nasal ridge; Epicanthus; Fetal polyuria; Hypertelorism; Low-set ears; Nonketotic hypoglycemia; Oligohydramnios; Potter facies; Pulmonary hypoplasia; Redundant skin; Renal agenesis; Tracheoesophageal fistula; Urogenital fistulaCongenital Kidney and Urinary Tract (CKUT) Anomalies; Fanconi Anemia
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GLB13p22.3100%gene with protein product611458ELNR1Abnormal heart valve morphology; Abnormality of blood and blood-forming tissues; Abnormality of the face; Abnormality of the liver; Abnormality of the spleen; Abnormality of the urinary system; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Aortic valve stenosis; Ataxia; Autosomal recessive inheritance; Beaking of vertebral bodies; Carious teeth; Cerebral atrophy; Cerebral degeneration; Cervical myelopathy; Cervical subluxation; Cherry red spot of the macula; Coarse facial features; Congestive heart failure; Constricted iliac wings; Coxa valga; Death in infancy; Decreased beta-galactosidase activity; Depressed nasal ridge; Developmental stagnation; Diffuse cerebral atrophy; Dilated cardiomyopathy; Disproportionate short-trunk short stature; Dystonia; Epiphyseal deformities of tubular bones; Flared iliac wings; Flaring of rib cage; Foam cells; Frontal bossing; Gait disturbance; Generalized myoclonic seizures; Genu valgum; Gingival overgrowth; Grayish enamel; Hearing impairment; Hepatomegaly; Hyperlordosis; Hypertelorism; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic vertebral bodies; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intimal thickening in the coronary arteries; Joint laxity; Joint stiffness; Juvenile onset; Keratan sulfate excretion in urine; Kyphosis; Mandibular prognathia; Metaphyseal widening; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Ovoid vertebral bodies; Platyspondyly; Pointed proximal second through fifth metacarpals; Progressive psychomotor deterioration; Prominent sternum; Recurrent upper respiratory tract infections; Restrictive ventilatory defect; Scoliosis; Sea-blue histiocytosis; Severe short stature; Short neck; Short stature; Skeletal muscle atrophy; Slurred speech; Spastic tetraplegia; Splenomegaly; Thickened ribs; Ulnar deviation of the wrist; Vacuolated lymphocytes; Ventriculomegaly; Wide mouth; Widely spaced teeth
GLI22q14.299.99%gene with protein product165230Abnormal cortical gyration; Abnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of incisor; Amenorrhea; Anophthalmia; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Bilateral cleft lip and palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Global developmental delay; Growth hormone deficiency; Holoprosencephaly; Hydrocephalus; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypopituitarism; Hypoplasia of the maxilla; Hypoplasia of the premaxilla; Hypotelorism; Hypotension; Incomplete penetrance; Infertility; Macrotia; Malar flattening; Microcephaly; Micropenis; Microphthalmia; Midface retrusion; Optic nerve hypoplasia; Osteopenia; Panhypopituitarism; Partial agenesis of the corpus callosum; Pituitary hypothyroidism; Postaxial hand polydactyly; Prominent antihelix; Seizures; Short hard palate; Short philtrum; Short stature; Single median maxillary incisor; Single naris; Sporadic; Underdeveloped tragus; Variable expressivity
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
GMNN6p22.397.96%gene with protein product602842Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal dominant inheritance; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Conductive hearing impairment; Craniosynostosis; Cryptorchidism; Delayed puberty; Delayed skeletal maturation; Depressed nasal ridge; Failure to thrive; Feeding difficulties; Growth hormone deficiency; High, narrow palate; Hip dysplasia; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Recurrent respiratory infections; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Short middle phalanx of finger; Slender long bone; Stenosis of the external auditory canal; Umbilical hernia
GREB1L18q11.1-q11.0 %gene with protein productThis gene currently has no coverage by XomeDxSlice.617782KIAA1772Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of the sacrum; Depressed nasal ridge; Epicanthus; Fetal polyuria; Hypertelorism; Low-set ears; Nonketotic hypoglycemia; Oligohydramnios; Pulmonary hypoplasia; Renal agenesis; Tracheoesophageal fistula; Urogenital fistula
HDAC6Xp11.2399.95%gene with protein product300272Abnormality of the calcaneus; Death in infancy; Decreased skull ossification; Depressed nasal ridge; Distal shortening of limbs; Frontal bossing; Hydrocephalus; Hypoplasia of the calcaneus; Hypoplastic iliac wing; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Macrocephaly; Metaphyseal chondrodysplasia; Metaphyseal cupping of metacarpals; Metaphyseal cupping of proximal phalanges; Microphthalmia; Platyspondyly; Rhizomelia; Short foot; Short nose; Short palm; Short stature; Thin ribs; X-linked dominant inheritance
HDAC6Xp11.2399.95%gene with protein product300272Abnormality of the calcaneus; Death in infancy; Decreased skull ossification; Depressed nasal ridge; Distal shortening of limbs; Frontal bossing; Hydrocephalus; Hypoplasia of the calcaneus; Hypoplastic iliac wing; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Macrocephaly; Metaphyseal chondrodysplasia; Metaphyseal cupping of metacarpals; Metaphyseal cupping of proximal phalanges; Microphthalmia; Platyspondyly; Rhizomelia; Short foot; Short nose; Short palm; Short stature; Thin ribs; X-linked dominant inheritance
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
ITGA810p1399.98%gene with protein product604063Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of the foot; Abnormality of the sacrum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Congenital onset; Depressed nasal ridge; Epicanthus; Fetal polyuria; Hypertelorism; Hypertension; Low-set ears; Nonketotic hypoglycemia; Oligohydramnios; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Retrognathia; Talipes equinovarus; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresiaCongenital Kidney and Urinary Tract (CKUT) Anomalies; Fanconi Anemia
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
LHX41q25.2100%gene with protein product602146Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Ectopic posterior pituitary; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Marked delay in bone age; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary dwarfism; Pituitary hypothyroidism; Septo-optic dysplasia; Severe postnatal growth retardation; Short stature; Sleep disturbance; Umbilical hernia
LMBR17q36.398.68%gene with protein product605522C7orf21-5 finger complete cutaneous syndactyly; 1-5 finger syndactyly; 2-3 toe syndactyly; 6 metacarpals; Abnormal heart morphology; Abnormality of epiphysis morphology; Abnormality of the face; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the wrist; Absent forearm; Absent hand; Absent metatarsal bone; Absent radius; Absent tibia; Absent toe; Aplasia of metacarpal bones; Aplasia of the phalanges of the hand; Aplasia of the tarsal bones; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad foot; Camptodactyly of finger; Carpal bone aplasia; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Depressed nasal ridge; Duplication of phalanx of hallux; Duplication of thumb phalanx; Fibular aplasia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Increased fibular diameter; Limb duplication; Limitation of joint mobility; Lower limb peromelia; Mirror image polydactyly; Opposable triphalangeal thumb; Patellar aplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial hand polydactyly; Prominent nose; Short columella; Short foot; Short humerus; Short tibia; Supernumerary metacarpal bones; Syndactyly; Talipes; Tarsal synostosis; Toe syndactyly; Triphalangeal thumb; Underdeveloped nasal alae; Upper limb phocomelia
MAN2B119p13.1399.99%gene with protein product609458MANBAbnormality of the rib cage; Autosomal recessive inheritance; Babinski sign; Broad forehead; Cerebellar atrophy; Cerebral atrophy; Coarse facial features; Decreased antibody level in blood; Delayed myelination; Depressed nasal ridge; Dysarthria; Dysostosis multiplex; Epicanthus; Femoral bowing; Flat occiput; Frontal bossing; Gait ataxia; Generalized hypotonia; Gingival overgrowth; Gliosis; Global developmental delay; Growth delay; Hepatomegaly; Hyperreflexia; Hypertrichosis; Impaired smooth pursuit; Increased vertebral height; Inguinal hernia; Intellectual disability; Limb ataxia; Low anterior hairline; Macrocephaly; Macroglossia; Macrotia; Malar flattening; Mandibular prognathia; Midface retrusion; Nystagmus; Pectus carinatum; Progressive retinal degeneration; Recurrent bacterial infections; Sensorineural hearing impairment; Spasticity; Spinocerebellar tract disease in lower limbs; Splenomegaly; Spondylolisthesis; Thick eyebrow; Thickened calvaria; Thoracolumbar kyphosis; Vacuolated lymphocytes; Widely spaced teeth
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MYH317p13.1100%gene with protein product160720Abnormal auditory evoked potentials; Abnormality of the dentition; Abnormality of the ear; Abnormality of the hip bone; Abnormality of the skin; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Breech presentation; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Cerebellar atrophy; Chin with H-shaped crease; Cryptorchidism; Deeply set eye; Depressed nasal ridge; Dimple chin; Distal arthrogryposis; Downslanted palpebral fissures; Elbow flexion contracture; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fever; Flat face; Flexion contracture of toe; Hearing impairment; Hemivertebrae; High palate; Hip contracture; Hip dislocation; Hypertelorism; Hypoplasia of the brainstem; Inguinal hernia; Joint contracture of the hand; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Long philtrum; Low-set, posteriorly rotated ears; Malar flattening; Malignant hyperthermia; Mandibular prognathia; Mask-like facies; Metatarsus adductus; Microcephaly; Micrognathia; Multiple pterygia; Muscle weakness; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Overlapping fingers; Postnatal growth retardation; Prenatal movement abnormality; Prominent forehead; Prominent nasolabial fold; Protruding ear; Ptosis; Rocker bottom foot; Round ear; Scoliosis; Seizures; Short neck; Short nose; Short stature; Shoulder flexion contracture; Small for gestational age; Spina bifida occulta; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Telecanthus; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Whistling appearance; Wide nasal bridge
NALCN13q32.3-q33.100%gene with protein product611549VGCNL1Abnormal pyramidal signs; Abnormality of the dentition; Abnormality of the hip bone; Adducted thumb; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Brachycephaly; Camptodactyly; Camptodactyly of finger; Congenital contracture; Congenital onset; Constipation; Cryptorchidism; Decreased motor nerve conduction velocity; Deeply set eye; Delayed speech and language development; Depressed nasal ridge; Dimple chin; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged naris; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hip contracture; Hyperreflexia; Hypertelorism; Inguinal hernia; Joint stiffness; Knee flexion contracture; Long philtrum; Low-set ears; Macrotia; Malignant hyperthermia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Nystagmus; Optic atrophy; Overlapping fingers; Pectus carinatum; Poor eye contact; Postnatal growth retardation; Prenatal movement abnormality; Progressive; Prominent forehead; Protruding ear; Ptosis; Pursed lips; Respiratory insufficiency; Round ear; Scoliosis; Seizures; Short columella; Short neck; Short nose; Short stature; Skeletal muscle atrophy; Slender nose; Smooth philtrum; Spastic tetraplegia; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Thin upper lip vermilion; Triangular face; Ulnar deviation of finger; Ulnar deviation of the wrist; Umbilical hernia; Underdeveloped nasal alae; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PEPD19q13.1199.96%gene with protein product613230Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the middle ear; Anemia; Arachnodactyly; Asthma; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Carious teeth; Chronic lung disease; Convex nasal ridge; Crusting erythematous dermatitis; Cutaneous photosensitivity; Depressed nasal bridge; Depressed nasal ridge; Diffuse telangiectasia; Dry skin; Erythema; Generalized hirsutism; Genu valgum; Global developmental delay; Hearing impairment; Hepatomegaly; Hypertelorism; Low anterior hairline; Low posterior hairline; Micrognathia; Palmoplantar keratoderma; Papule; Petechiae; Prolonged neonatal jaundice; Prominent forehead; Proptosis; Pruritus; Ptosis; Recurrent pneumonia; Recurrent respiratory infections; Short nose; Skin ulcer; Splenomegaly; Systemic lupus erythematosus; Thin skin; Thrombocytopenia; Visual impairment; White forelock
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PIGL17p11.2100%gene with protein product605947Abnormal dermatoglyphics; Abnormality of epiphysis morphology; Abnormality of the outer ear; Acute lymphoblastic leukemia; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplastic clavicles; Autosomal recessive inheritance; Brachycephaly; Broad-based gait; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Conductive hearing impairment; Corneal opacity; Depressed nasal bridge; Depressed nasal ridge; Duplicated collecting system; Epicanthus; Erythema; Fine hair; Frontal bossing; Generalized hypotonia; Hearing impairment; Hydronephrosis; Hypertelorism; Hypodontia; Hypoplastic nipples; Ichthyosis; Increased number of teeth; Intellectual disability; Joint contracture of the hand; Large for gestational age; Large hands; Long foot; Low-set nipples; Microdontia; Overfolded helix; Palmoplantar hyperkeratosis; Peripheral pulmonary artery stenosis; Prominent forehead; Ptosis; Pulmonary valve atresia; Retinal coloboma; Seizures; Short foot; Short palm; Short philtrum; Sparse hair; Strabismus; Tall stature; Tetralogy of Fallot; Thick lower lip vermilion; Thick vermilion border; Transposition of the great arteries; Upslanted palpebral fissure; Ureteropelvic junction obstruction; Ventricular septal defect; Violent behavior; Webbed neck; Wide mouth; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
PKHD16p12.3-p12.299.97%gene with protein product606702TIGM1Absence of renal corticomedullary differentiation; Autosomal recessive inheritance; Biliary tract abnormality; Congenital hepatic fibrosis; Dehydration; Depressed nasal ridge; Enlarged kidney; Esophageal varix; Hepatic cysts; Hepatomegaly; Hypoplasia of the ear cartilage; Low-set, posteriorly rotated ears; Macrotia; Micrognathia; Multiple renal cysts; Oligohydramnios; Pancreatic cysts; Periportal fibrosis; Polycystic kidney dysplasia; Portal hypertension; Potter facies; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia/aplasia; Renal insufficiency; Respiratory insufficiency; Splenomegaly; Tubulointerstitial fibrosis
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
PRDM161p36.32100%gene with protein product605557Abnormal left ventricle morphology; Absent speech; Agenesis of corpus callosum; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congestive heart failure; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dilated cardiomyopathy; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Left ventricular noncompaction; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
PTPN1112q24.1399.75%gene with protein product176876NS1Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal joint morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pulmonary artery; Abnormality of the spleen; Amegakaryocytic thrombocytopenia; Aplasia of the ovary; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Aseptic necrosis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Bone pain; Bowing of the long bones; Brachydactyly; Bundle branch block; Cafe-au-lait spot; Cleft palate; Clinodactyly; Coarctation of aorta; Coarse hair; Cranial nerve paralysis; Cryptorchidism; Cubitus valgus; Cystic hygroma; Decreased fertility; Delayed menarche; Delayed puberty; Delayed skeletal maturation; Dental malocclusion; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Epicanthus; Exostoses; Failure to thrive in infancy; Feeding difficulties in infancy; Freckling; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hyposmia; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Limited elbow movement; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Male infertility; Mandibular prognathia; Melanocytic nevus; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Mitral valve prolapse; Multiple digital exostoses; Multiple enchondromatosis; Multiple lentigines; Muscle weakness; Muscular hypotonia; Myopia; Neurofibrosarcoma; Parietal bossing; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Postnatal growth retardation; Proptosis; Protruding ear; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Scapular winging; Scoliosis; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short stature; Somatic mutation; Spina bifida occulta; Sprengel anomaly; Strabismus; Subvalvular aortic stenosis; Superior pectus carinatum; Synovitis; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Third degree atrioventricular block; Triangular face; Unilateral renal agenesis; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridgeBone Marrow Failure Syndromes
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
RPGRIP114q11.299.98%gene with protein product605446RPGRIPAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cleft palate; Cone/cone-rod dystrophy; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hemiplegia/hemiparesis; High hypermetropia; Hypertelorism; Keratoconus; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Macular degeneration; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Oligohydramnios; Optic atrophy; Pendular nystagmus; Photophobia; Postaxial foot polydactyly; Postaxial hand polydactyly; Reduced visual acuity; Sclerocornea; Seizures; Severe visual impairment; Sloping forehead; Talipes; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Visual impairmentHeterotaxy
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
RPS1919q13.2100%gene with protein product60347411 pairs of ribs; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Bifid thoracic vertebrae; Cleft palate; Cleft upper lip; Coarctation of aorta; Colon cancer; Congenital hypoplastic anemia; Congestive heart failure; Delayed cranial suture closure; Delayed puberty; Depressed nasal ridge; Downslanted palpebral fissures; Elevated red cell adenosine deaminase activity; Failure to thrive; Fatigue; High palate; Hypertelorism; Hypoplasia of the radius; Hypoplastic coccygeal vertebrae; Hypoplastic ilia; Hypoplastic sacral vertebrae; Infantile onset; Intrauterine growth retardation; Macrocytic anemia; Microcephaly; Micrognathia; Migraine; Myelodysplasia; Narrow chest; Neutropenia; Osteosarcoma; Pallor; Parietal foramina; Partial duplication of thumb phalanx; Premature birth; Reticulocytopenia; Retrognathia; Short neck; Short stature; Short thumb; Strabismus; Thrombocytopenia; Thrombocytosis; Triphalangeal thumb; Ventricular septal defect; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
SETD23p21.3199.97%gene with protein product612778Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Advanced ossification of carpal bones; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arnold-Chiari malformation; Autistic behavior; Autosomal dominant inheritance; Conductive hearing impairment; Delayed speech and language development; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; High anterior hairline; High forehead; High palate; Hirsutism; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Long foot; Long nose; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Menstrual irregularities; Muscular hypotonia; Obesity; Overgrowth; Phenotypic variability; Pointed chin; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent forehead; Recurrent otitis media; Seizures; Short stature; Shyness; Slurred speech; Syringomyelia; Tall stature; VentriculomegalyObesity
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SMARCA419p13.298.03%gene with protein product603254SNF2L4Abnormality of cardiovascular system morphology; Abnormality of the corpus callosum; Abnormality of the dentition; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertrichosis; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Macroglossia; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Wide mouth; Wide nasal bridge; Wide nose
SMARCB122q11.23100%gene with protein product601607SNF5L1Abnormality of cardiovascular system morphology; Abnormality of the corpus callosum; Abnormality of the dentition; Anteverted nares; Apathy; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Ataxia; Autosomal dominant inheritance; Choroid plexus carcinoma; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of permanent teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hydrocephalus; Hypertrichosis; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Irritability; Joint hyperflexibility; Limitation of joint mobility; Long eyelashes; Macrocephaly; Macroglossia; Malignant neoplasm of the central nervous system; Medulloblastoma; Microcephaly; Migraine; Muscle weakness; Muscular hypotonia; Nausea and vomiting; Nystagmus; Recurrent respiratory infections; Reduced consciousness/confusion; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Sparse hair; Sparse scalp hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Visual impairment; Wide mouth; Wide nasal bridge; Wide nose
SMARCE117q21.299.74%gene with protein product603111Abnormality of cardiovascular system morphology; Abnormality of the dentition; Absent speech; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Arachnodactyly; Atrial septal defect; Autosomal dominant inheritance; Cerebellar hypoplasia; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Dystrophic toenail; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Microcephaly; Muscular hypotonia; Nystagmus; Ptosis; Recurrent infections; Recurrent respiratory infections; Sandal gap; Scoliosis; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Slow-growing hair; Sparse scalp hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thin upper lip vermilion; Wide mouth; Wide nasal bridge; Wide nose
SOX112p25.2100%gene with protein product600898Abnormal facial shape; Abnormality of cardiovascular system morphology; Abnormality of the columella; Abnormality of the dentition; Abnormality of the nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Clinodactyly; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Everted lower lip vermilion; Feeding difficulties in infancy; Full cheeks; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hypertrichosis; Hypoplastic fifth fingernail; Hypoplastic fifth toenail; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Long nose; Low-set ears; Microcephaly; Midface retrusion; Muscular hypotonia; Nystagmus; Open mouth; Posteriorly rotated ears; Recurrent respiratory infections; Scoliosis; Seizures; Short chin; Short distal phalanx of finger; Short nose; Short palpebral fissure; Short philtrum; Short stature; Slow-growing hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide mouth; Wide nasal bridge
SOX3Xq27.199.53%gene with protein product313430PHPAbnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of corpus callosum; Ambiguous genitalia; Amenorrhea; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Cleft palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability, mild; Male hypogonadism; Nystagmus; Panhypopituitarism; Pituitary dwarfism; Pituitary hypothyroidism; Polycystic ovaries; Seizures; Septo-optic dysplasia; Short stature; Strabismus; Visual impairment; X-linked inheritanceDisorders of Sex Development
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
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TCTN310q24.1100%gene with protein product613847C10orf61Abnormal oral frenulum morphology; Abnormality of eye movement; Abnormality of the gingiva; Abnormality of the tongue; Absent testis; Accessory oral frenulum; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical hemiatrophy; Choanal atresia; Cleft palate; Clinodactyly; Conductive hearing impairment; Decreased testicular size; Depressed nasal ridge; Epicanthus; Failure to thrive; Feeding difficulties; Finger syndactyly; Foot polydactyly; Genu varum; Global developmental delay; Hamartoma; Hamartoma of tongue; Hand polydactyly; High palate; High, narrow palate; Horseshoe kidney; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Joint laxity; Kyphoscoliosis; Laryngomalacia; Lobulated tongue; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Micromelia; Microtia, third degree; Molar tooth sign on MRI; Monorchism; Oligohydramnios; Oral synechia; Pectus excavatum; Phenotypic variability; Polydactyly; Porencephalic cyst; Postaxial hand polydactyly; Posteriorly rotated ears; Preaxial hand polydactyly; Proptosis; Recurrent respiratory infections; Retrognathia; Severe short stature; Short finger; Short nose; Short stature; Short tibia; Specific learning disability; Split hand; Subcortical cerebral atrophy; Submucous cleft hard palate; Toe syndactyly; Tongue nodules; Ventricular septal defect; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
TFAP2B6p12.399.99%gene with protein product601601Autosomal dominant inheritance; Broad forehead; Broad nasal tip; Clinodactyly of the 5th finger; Depressed nasal bridge; Depressed nasal ridge; Distal/middle symphalangism of 5th finger; Downslanted palpebral fissures; Everted lower lip vermilion; Global developmental delay; Highly arched eyebrow; Hypertelorism; Intellectual disability, mild; Low-set ears; Malar flattening; Mesoaxial hand polydactyly; Parasomnia; Patent ductus arteriosus; Protruding ear; Ptosis; Short middle phalanx of the 5th finger; Short philtrum; Strabismus; Thick eyebrow; Thick vermilion border; Triangular mouth
TMEM10717p13.1100%gene with protein product616183Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM23116q23.199.51%gene with protein product614949Abnormal chorioretinal morphology; Absent speech; Aggressive behavior; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Global developmental delay; Hypertelorism; Intellectual disability; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Respiratory insufficiency; Retinal dystrophy; Sclerocornea; Self-mutilation; Sloping forehead; Tachypnea; TalipesHeterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease
TWIST22q37.3100%gene with protein product607556Ablepharon; Abnormal hair pattern; Abnormal nasal morphology; Abnormality of female external genitalia; Abnormality of male external genitalia; Abnormality of the pinna; Abnormality of the sacroiliac joint; Abnormality of the upper urinary tract; Absent eyebrow; Absent eyelashes; Aged leonine appearance; Ambiguous genitalia; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast aplasia; Breast hypoplasia; Bulbous nose; Camptodactyly of finger; Corneal opacity; Cryptophthalmos; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Dermal atrophy; Dimple chin; Distichiasis; Downturned corners of mouth; Dry skin; Ectodermal dysplasia; Ectropion; Epicanthus; Excessive wrinkled skin; Failure to thrive; Fine hair; Generalized hirsutism; Global developmental delay; Hearing impairment; Highly arched eyebrow; Hyperextensible skin; Hypertelorism; Hypertrichosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic nipples; Low-set ears; Mandibular prognathia; Microdontia; Microtia; Microtia, third degree; Multiple rows of eyelashes; Myopia; Periorbital fullness; Prematurely aged appearance; Redundant skin; Short philtrum; Sparse and thin eyebrow; Sparse hair; Sparse lateral eyebrow; Sparse lower eyelashes; Sparse or absent eyelashes; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Underdeveloped nasal alae; Ventral hernia; Visual impairment; Wide mouth; Wide nasal bridgeEctodermal Dysplasia
WDPCP2p1599.99%gene with protein product613580C2orf862-3 finger syndactyly; Abnormal chorioretinal morphology; Abnormal electroretinogram; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Benign neoplasm of the central nervous system; Broad hallux; Cataract; Cleft palate; Coarctation of aorta; Complete atrioventricular canal defect; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hamartoma of tongue; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Nystagmus; Obesity; Oligohydramnios; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short stature; Sloping forehead; Subvalvular aortic stenosis; TalipesBardet-Biedl Syndrome ; Heterotaxy ; Obesity


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