XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Dental crowding

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AMER1Xq11.2100%gene with protein product300647FAM123BAbnormality of the metaphysis; Apnea; Arachnodactyly; Atrial septal defect; Bifid uvula; Broad ribs; Camptodactyly; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Craniofacial osteosclerosis; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Epicanthus; Facial hyperostosis; Facial palsy; Failure to thrive; Fibular aplasia; Fibular hypoplasia; Flat occiput; Flexion contracture of toe; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; High iliac wings; High, narrow palate; Hydrocephalus; Hypertelorism; Intellectual disability, mild; Intestinal malrotation; Joint contracture of the hand; Large fontanelles; Large iliac wings; Laryngeal web; Low-set ears; Macrocephaly; Micrognathia; Microtia; Narrow forehead; Nasal speech; Natal tooth; Oligohydramnios; Osteopathia striata; Osteopetrosis; Overfolded helix; Paranasal sinus hypoplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pectus excavatum; Pierre-Robin sequence; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Rough bone trabeculation; Sclerosis of skull base; Scoliosis; Seizures; Short stature; Spina bifida occulta; Straight clavicles; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened calvaria; Thoracolumbar kyphosis; Tracheomalacia; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridge; X-linked dominant inheritance
ATP6V1E122q11.21100%gene with protein product108746ATP6E, ATP6V1EAbnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Aortic regurgitation; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Broad columella; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased body weight; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Dental crowding; Disproportionate tall stature; Downslanted palpebral fissures; Entropion; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hand clenching; High myopia; High palate; Hip dysplasia; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Joint laxity; Knee flexion contracture; Kyphoscoliosis; Laryngomalacia; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Mitral valve prolapse; Motor delay; Narrow naris; Nystagmus; Pachygyria; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Reduced subcutaneous adipose tissue; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Tricuspid regurgitation
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
BANF111q13.1100%gene with protein product603811Abnormality of the forearm; Abnormality of the ribs; Atherosclerosis; Autosomal recessive inheritance; Convex nasal ridge; Delayed closure of the anterior fontanelle; Dental crowding; Failure to thrive; Flexion contracture; Joint stiffness; Lipoatrophy; Malar flattening; Micrognathia; Midface retrusion; Osteolytic defects of the distal phalanges of the hand; Osteoporosis; Progressive clavicular acroosteolysis; Proptosis; Pulmonary arterial hypertension; Right bundle branch block; Scoliosis; Short stature; Sinus tachycardia; Sparse and thin eyebrow; Sparse eyelashes; Spotty hyperpigmentation; Wide cranial sutures
BBS111q13.2100%gene with protein product209901Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Retinal degeneration; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS415q24.199.96%gene with protein product600374Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; External genital hypoplasia; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BCORXp11.4100%gene with protein product3004852-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Aortic valve stenosis; Asymmetry of the ears; Atrial septal defect; Bicuspid aortic valve; Bifid nasal tip; Bifid uvula; Blepharophimosis; Blindness; Broad nasal tip; Broad palm; Camptodactyly; Camptodactyly of finger; Cataract; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Complete duplication of thumb phalanx; Congenital cataract; Cryptorchidism; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Down-sloping shoulders; Exotropia; External ear malformation; Finger syndactyly; Flexion contracture of the 2nd toe; Flexion contracture of the 4th toe; Fused teeth; Generalized hypotonia; Glaucoma; Growth delay; Hammertoe; Hearing impairment; High, narrow palate; Hydronephrosis; Hydroureter; Hypospadias; Increased number of teeth; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Laterally curved eyebrow; Long face; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Microcephaly; Microcornea; Microphthalmia; Misalignment of teeth; Mitral valve prolapse; Motor delay; Narrow chest; Narrow face; Oligodontia; Optic nerve coloboma; Oral cleft; Overfolded helix; Patent ductus arteriosus; Pectus excavatum; Persistence of primary teeth; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Pyloric stenosis; Radial deviation of finger; Radioulnar synostosis; Rectal prolapse; Recurrent otitis media; Remnants of the hyaloid vascular system; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Sensorineural hearing impairment; Septate vagina; Short clavicles; Short stature; Spastic diplegia; Submucous cleft hard palate; Syndactyly; Thick eyebrow; Ventricular septal defect; Visual loss; Webbed neck; X-linked dominant inheritance; X-linked inheritanceDisorders of Sex Development
C12ORF5712p13.31100%gene with protein product615140Agenesis of corpus callosum; Aortic aneurysm; Aortic regurgitation; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachydactyly; Chorioretinal coloboma; Coarse facial features; Convex nasal ridge; Dental crowding; Dolichocephaly; Downslanted palpebral fissures; Ectopia lentis; Frontal bossing; Generalized hypotonia; Genu varum; Global developmental delay; Highly arched eyebrow; Hip dislocation; Hypertelorism; Hypoplasia of teeth; Infantile onset; Intellectual disability; Intellectual disability, mild; Iris coloboma; Long face; Long philtrum; Lop ear; Low-set ears; Macrocephaly; Micrognathia; Myopia; Pes planus; Short 2nd toe; Short toe; Talipes equinovarus; Ventriculomegaly
CBS21q22.399.94%gene with protein product613381Abnormality of amino acid metabolism; Amblyopia; Arachnodactyly; Arterial thrombosis; Arteriovenous malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Brittle hair; Cerebral ischemia; Cutis marmorata; Dental crowding; Depressivity; Disproportionate tall stature; Ectopia lentis; Generalized osteoporosis; Genu valgum; Glaucoma; Hepatic steatosis; High palate; Homocystinuria; Hypertension; Hypopigmentation of the skin; Inguinal hernia; Intellectual disability; Joint stiffness; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Mitral valve prolapse; Myocardial infarction; Myopia; Osteoporosis; Pancreatitis; Pectus carinatum; Pectus excavatum; Personality disorder; Pulmonary embolism; Recurrent fractures; Scoliosis; Seizures; Sparse scalp hair; Stroke; Tall stature; Thromboembolism; Venous thrombosis
CBS21q22.399.94%gene with protein product613381Abnormality of amino acid metabolism; Amblyopia; Arachnodactyly; Arterial thrombosis; Arteriovenous malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Brittle hair; Cerebral ischemia; Cutis marmorata; Dental crowding; Depressivity; Disproportionate tall stature; Ectopia lentis; Generalized osteoporosis; Genu valgum; Glaucoma; Hepatic steatosis; High palate; Homocystinuria; Hypertension; Hypopigmentation of the skin; Inguinal hernia; Intellectual disability; Joint stiffness; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Mitral valve prolapse; Myocardial infarction; Myopia; Osteoporosis; Pancreatitis; Pectus carinatum; Pectus excavatum; Personality disorder; Pulmonary embolism; Recurrent fractures; Scoliosis; Seizures; Sparse scalp hair; Stroke; Tall stature; Thromboembolism; Venous thrombosis
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DSE6q22.1100%gene with protein product605942SART2Adducted thumb; Arachnodactyly; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Delayed gross motor development; Dental crowding; Downslanted palpebral fissures; Frontal bossing; Generalized muscle weakness; High palate; Inguinal hernia; Patent foramen ovale; Protruding ear; Talipes equinovarus; Telecanthus
DVL11p36.33100%gene with protein product601365Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital onset; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short distal phalanx of finger; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide nose
DVL11p36.33100%gene with protein product601365Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital onset; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short distal phalanx of finger; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide nose
EDNRA4q31.22-q31.100%gene with protein product131243Autosomal dominant inheritance; Cleft palate; Conductive hearing impairment; Cupped ear; Delayed eruption of primary teeth; Dental crowding; Everted lower lip vermilion; Facial asymmetry; Hypoplasia of the maxilla; Low-set ears; Mandibulofacial dysostosis; Micrognathia; Protruding ear; Sparse and thin eyebrow; Sparse eyelashes; Stenosis of the external auditory canal; Trismus; Wide nasal bridge
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FLCN17p11.2100%gene with protein product607273Abnormal renal morphology; Abnormality of abdomen morphology; Abnormality of retinal pigmentation; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the pleura; Autism; Autosomal dominant inheritance; Broad forehead; Delayed myelination; Dental crowding; Dental malocclusion; Downslanted palpebral fissures; Dysphasia; Echolalia; EEG abnormality; Emphysema; Expressive language delay; Failure to thrive; Feeding difficulties in infancy; Fibrofolliculoma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; High palate; Hyperactivity; Hypermetropia; Hypertelorism; Hypocholesterolemia; Hypoplasia of the corpus callosum; Incomplete penetrance; Intellectual disability, mild; Language impairment; Mandibular prognathia; Microcephaly; Micrognathia; Multiple lipomas; Neoplasm of the stomach; Oral-pharyngeal dysphagia; Papule; Patent foramen ovale; Phenotypic variability; Pneumothorax; Poor eye contact; Prominent nasal tip; Pulmonary sequestration; Receptive language delay; Renal cell carcinoma; Renal cyst; Scoliosis; Seizures; Short stature; Skin tags; Sleep apnea; Small for gestational age; Smooth philtrum; Spontaneous pneumothorax; Sporadic; Stereotypy; Transitional cell carcinoma of the bladder; Triangular face; Trigonocephaly; Uterine leiomyosarcoma; Wide mouth
FRAS14q21.21100%gene with protein product607830Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
FRAS14q21.21100%gene with protein product607830Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
FREM213q13.3100%gene with protein product608945Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
FREM213q13.3100%gene with protein product608945Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GNAI31p13.3100%gene with protein product139370Anterior open-bite malocclusion; Apnea; Autosomal dominant inheritance; Chewing difficulties; Cleft at the superior portion of the pinna; Cleft palate; Cupped ear; Dental crowding; Dental malocclusion; Hypoplastic superior helix; Low-set ears; Macrocephaly; Mandibular condyle aplasia; Mandibular condyle hypoplasia; Overfolding of the superior helices; Postauricular skin tag; Posteriorly rotated ears; Preauricular skin tag; Round face; Snoring; Speech articulation difficultiesAlbinism
GRIP112q14.3100%gene with protein product604597Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia ; Heterotaxy
GRIP112q14.3100%gene with protein product604597Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia ; Heterotaxy
IL1RAPL1Xp21.3-p21.2100%gene with protein product300206IL1RAPL, MRX34, MRX21, MRX10Autism; Dental crowding; Hyperactivity; Hypertelorism; Intellectual disability; Intellectual disability, moderate; Joint hypermobility; Mandibular prognathia; Open mouth; Short nose; Synophrys; Tented upper lip vermilion; Uplifted earlobe; Upslanted palpebral fissure; X-linked recessive inheritance
LGI419q13.1299.99%gene with protein product608303Ankle contracture; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Camptodactyly; Congenital onset; Dental crowding; Distal arthrogryposis; Elbow flexion contracture; EMG abnormality; Esotropia; Fetal akinesia sequence; Generalized hypotonia; High palate; Hip contracture; Internally rotated shoulders; Knee flexion contracture; Limitation of joint mobility; Micrognathia; Muscular hypotonia; Narrow forehead; Poor head control; Protruding ear; Ptosis; Reduced tendon reflexes; Respiratory distress; Retrognathia; Scapular winging; Talipes equinovarus
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
MASP13q27.3100%gene with protein product600521CRARF, PRSS5Abnormal anterior chamber morphology; Abnormality of eye movement; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Blepharophimosis; Broad foot; Caudal appendage; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Conjunctival telangiectasia; Coronal craniosynostosis; Craniosynostosis; Dental crowding; Diastasis recti; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus inversus; Glaucoma; Growth delay; Hearing impairment; Highly arched eyebrow; Hydronephrosis; Hyperlordosis; Hypertelorism; Intellectual disability; Intellectual disability, mild; Lambdoidal craniosynostosis; Large fleshy ears; Limited pronation/supination of forearm; Microcephaly; Omphalocele; Oral cleft; Patent ductus arteriosus; Postnatal growth retardation; Ptosis; Radioulnar synostosis; Sacral dimple; Scoliosis; Short 5th finger; Short foot; Single interphalangeal crease of fifth finger; Skull asymmetry; Spina bifida occulta; Supernumerary nipple; Telecanthus; Underdeveloped supraorbital ridges; Ventricular septal defect; Wide anterior fontanel
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
NONOXq13.1100%gene with protein product300084Aggressive behavior; Ataxia; Dental crowding; Frontal bossing; Generalized hypotonia; Hallux valgus; High, narrow palate; Increased head circumference; Intellectual disability; Joint laxity; Kyphosis; Left ventricular noncompaction; Long face; Malar flattening; Mild global developmental delay; Motor delay; Myopia; Narrow mouth; Nasal speech; Neonatal hypotonia; Open mouth; Patent ductus arteriosus; Patent foramen ovale; Perseveration; Pes planus; Prominent nose; Right ventricular hypertrophy; Scoliosis; Seizures; Slender build; Strabismus; Thickened calvaria; Tremor; Upslanted palpebral fissure; Ventricular septal defect; X-linked recessive inheritance
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
NSDHLXq28100%gene with protein product300275Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormality of digit; Abnormality of the nail; Aggressive behavior; Almond-shaped palpebral fissure; Aplasia/hypoplasia of the extremities; Cleft upper lip; Congenital ichthyosiform erythroderma; Delayed speech and language development; Dental crowding; Epicanthus; Epiphyseal stippling; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydronephrosis; Hyperactivity; Hyperkeratosis; Hyperlordosis; Hypoplastic pelvis; Intellectual disability; Intellectual disability, mild; Irritability; Joint hypermobility; Kyphosis; Long face; Malar flattening; Microcephaly; Micrognathia; Mild intrauterine growth retardation; Narrow face; Pachygyria; Parakeratosis; Polymicrogyria; Posteriorly rotated ears; Prominent nasal bridge; Retrognathia; Scoliosis; Seizures; Single ventricle; Sleep disturbance; Slender build; Strabismus; Umbilical hernia; Upslanted palpebral fissure; X-linked dominant inheritance; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PLCB420p12.3-p12.99.91%gene with protein product600810Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft at the superior portion of the pinna; Cleft palate; Dental crowding; Dental malocclusion; Hypoplastic superior helix; Low-set ears; Mandibular condyle aplasia; Mandibular condyle hypoplasia; Overfolding of the superior helices; Posteriorly rotated ears; Round face; Snoring; Speech articulation difficulties
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
POLD119q13.399.99%gene with protein product174761POLDAutosomal dominant inheritance; Convex nasal ridge; Cryptorchidism; Dental crowding; Dermal atrophy; Diabetes mellitus; Elevated hepatic transaminases; Flexion contracture; Hepatic steatosis; Hepatomegaly; High pitched voice; Hypertriglyceridemia; Hypogonadism; Insulin resistance; Kyphosis; Lack of skin elasticity; Lipodystrophy; Micrognathia; Narrow mouth; Osteoporosis; Proptosis; Scoliosis; Sensorineural hearing impairment; Telangiectasia
ROR29q22.31100%gene with protein product602337NTRKR2, BDB, BDB12nd-5th toe middle phalangeal hypoplasia; Absent fingernail; Absent uvula; Ankyloglossia; Anonychia; Anteverted nares; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the distal phalanges of the toes; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad hallux phalanx; Broad thumb; Broad toe; Camptodactyly; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Delayed cranial suture closure; Delayed eruption of permanent teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Disproportionate short-limb short stature; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Elbow dislocation; Epicanthus; Fingernail dysplasia; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hearing impairment; Hemivertebrae; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic female external genitalia; Hypoplastic fingernail; Hypoplastic labia majora; Hypoplastic sacrum; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Kyphosis; Long eyelashes; Long palpebral fissure; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malar flattening; Mesomelia; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Proptosis; Radial deviation of finger; Renal duplication; Rib fusion; Right ventricular outlet obstruction; Scoliosis; Short distal phalanx of finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short nose; Short palm; Syndactyly; Tented upper lip vermilion; Thin upper lip vermilion; Thoracic hemivertebrae; Thoracolumbar scoliosis; Triangular mouth; Type B brachydactyly; Umbilical hernia; Upslanted palpebral fissure; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Wide anterior fontanel; Wide mouth; Wide nasal bridgeDisorders of Sex Development
RPL10Xq28100%gene with protein product312173Abnormal facial shape; Ankle contracture; Branchial cyst; Camptodactyly; Cryptorchidism; Dental crowding; Finger syndactyly; Gastroesophageal reflux; Hypospadias; Knee flexion contracture; Laryngomalacia; Mandibular prognathia; Microcephaly; Muscular hypotonia; Protruding ear; Pulmonary artery stenosis; Recurrent infections; Sacral lipoma; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Single transverse palmar crease; Tapered finger; Thin upper lip vermilion
RPS6KA3Xp22.1298.52%gene with protein product300075MRX19, CLSAbnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of dental morphology; Anteverted nares; Bifid sternum; Brachydactyly; Broad finger; Broad nasal tip; Broad palm; Coarse facial features; Coarse hair; Coxa valga; Craniofacial hyperostosis; Cutis laxa; Cutis marmorata; Decreased body weight; Delayed closure of the anterior fontanelle; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Drumstick terminal phalanges; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Generalized hypotonia; High palate; Highly arched eyebrow; Hyperconvex fingernails; Hyperextensibility of the finger joints; Hypertelorism; Hypodontia; Hypoplasia of the maxilla; Hypoplastic fingernail; Inguinal hernia; Intellectual disability; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large hands; Long foot; Lumbar kyphosis; Mandibular prognathia; Microcephaly; Mitral regurgitation; Motor delay; Muscular hypotonia; Narrow iliac wings; Narrow palate; Neurological speech impairment; Open mouth; Pectus carinatum; Pectus excavatum; Pes planus; Progressive spasticity; Prominent forehead; Prominent supraorbital ridges; Protruding ear; Pseudoepiphyses of the metacarpals; Rectal prolapse; Redundant skin; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short distal phalanx of finger; Short metacarpal; Short stature; Single transverse palmar crease; Sporadic; Tapered finger; Telecanthus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick nasal septum; Thickened calvaria; Uterine prolapse; Ventriculomegaly; Wide mouth; Wide nose; Widely spaced teeth; X-linked dominant inheritance
SATB22q33.199.98%gene with protein product608148Aggressive behavior; Arachnodactyly; Autosomal dominant inheritance; Broad-based gait; Bulbous nose; Camptodactyly; Cleft palate; Conical tooth; Delayed speech and language development; Dental crowding; Downslanted palpebral fissures; Feeding difficulties; Fine hair; Frontal bossing; Global developmental delay; Happy demeanor; High forehead; High palate; Hyperactivity; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Long face; Long nose; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Nail dysplasia; Narrow mouth; Narrow nose; Oligodontia; Prominent nasal bridge; Seizures; Short stature; Smooth philtrum; Sparse hair; Talipes equinovarus; Thin skin; Thin vermilion border
SATB22q33.199.98%gene with protein product608148Aggressive behavior; Arachnodactyly; Autosomal dominant inheritance; Broad-based gait; Bulbous nose; Camptodactyly; Cleft palate; Conical tooth; Delayed speech and language development; Dental crowding; Downslanted palpebral fissures; Feeding difficulties; Fine hair; Frontal bossing; Global developmental delay; Happy demeanor; High forehead; High palate; Hyperactivity; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Long face; Long nose; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Nail dysplasia; Narrow mouth; Narrow nose; Oligodontia; Prominent nasal bridge; Seizures; Short stature; Smooth philtrum; Sparse hair; Talipes equinovarus; Thin skin; Thin vermilion border
SCARF222q11.21100%gene with protein product613619Abnormal eyebrow morphology; Arachnodactyly; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of toe; Cleft palate; Craniosynostosis; Dental crowding; Depressed nasal bridge; Dislocated radial head; Distal ulnar hypoplasia; Elbow flexion contracture; Everted lower lip vermilion; Femoral bowing; Glenoid fossa hypoplasia; Hallux valgus; High, narrow palate; Hypoplasia of the maxilla; Joint contracture of the hand; Knee flexion contracture; Laryngomalacia; Lateral clavicle hook; Long hallux; Long metacarpals; Malar flattening; Narrow foot; Narrow nose; Pectus excavatum; Protruding ear; Single umbilical artery; Slender long bone; Slender metacarpals; Stridor; Talipes equinovarus; Thin ribs; Ulnar bowing; Underdeveloped nasal alae
SDCCAG81q43-q4499.91%gene with protein product613524Abnormal electroretinogram; Abnormality of retinal pigmentation; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Bronchiolitis; Cognitive impairment; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; External genital hypoplasia; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Nephronophthisis; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Poor coordination; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Radial deviation of finger; Recurrent otitis media; Recurrent respiratory infections; Renal agenesis; Renal cyst; Renal dysplasia; Renal insufficiency; Respiratory distress; Retinal degeneration; Retinal dystrophy; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Stage 5 chronic kidney disease; Strabismus; Syndactyly; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
SETBP118q12.399.32%gene with protein product611060Abnormality of the nasopharynx; Absent speech; Anteverted nares; Aplasia/Hypoplasia of the pubic bone; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicornuate uterus; Brachycephaly; Broad ribs; Cerebral atrophy; Choanal stenosis; Coarse facial features; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Facial hemangioma; Failure to thrive; Hepatoblastoma; High forehead; High palate; Hydronephrosis; Hydroureter; Hyperconvex nail; Hypertelorism; Hypertrichosis; Hypoplasia of first ribs; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic nipples; Hypospadias; Hypsarrhythmia; Increased density of long bones; Intellectual disability; Long clavicles; Long face; Low-set ears; Macroglossia; Malar flattening; Metopic suture patent to nasal root; Micropenis; Midface retrusion; Motor delay; Narrow palate; Opisthotonus; Pointed chin; Postaxial hand polydactyly; Postnatal growth retardation; Prominent forehead; Ptosis; Sacrococcygeal teratoma; Sclerosis of skull base; Scrotal hypoplasia; Seizures; Shallow orbits; Short 1st metacarpal; Short distal phalanx of finger; Short neck; Short nose; Short sternum; Single transverse palmar crease; Sloping forehead; Synophrys; Talipes equinovarus; Thickened cortex of long bones; Thin upper lip vermilion; Tibial bowing; Ureteral stenosis; Ventriculomegaly; Wide distal femoral metaphysis; Widely patent fontanelles and sutures; Wormian bonesDisorders of Sex Development
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SMSXp22.1199.74%gene with protein product300105SRSAbnormality of the pinna; Bifid uvula; Broad-based gait; Cleft palate; Cryptorchidism; Decreased muscle mass; Dental crowding; Dysarthria; Facial asymmetry; Generalized hypotonia; High myopia; High, narrow palate; Hyperextensibility of the finger joints; Hypertelorism; Intellectual disability; Kyphoscoliosis; Long fingers; Long hallux; Long palm; Mandibular prognathia; Narrow palm; Nasal speech; Osteoporosis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Recurrent fractures; Seizures; Short philtrum; Short stature; Talipes equinovarus; Tall stature; Thick lower lip vermilion; Webbed neck; Wide intermamillary distance; X-linked recessive inheritance
SNX146q14.399.85%gene with protein product616105Anteverted nares; Apraxia; Ataxia; Autistic behavior; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Broad face; Broad philtrum; Camptodactyly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly; Coarse facial features; Delayed eruption of teeth; Dental crowding; Epicanthus; Generalized hypotonia; Global developmental delay; High palate; Hyporeflexia; Inability to walk; Infantile onset; Long philtrum; Prominent forehead; Relative macrocephaly; Short palpebral fissure; Spasticity; Talipes equinovarus; Thick vermilion border; Wide nasal base
SOX512p12.1100%gene with protein product6049752-3 toe syndactyly; Abnormality of brain morphology; Anxiety; Autosomal dominant inheritance; Bulbous nose; Clinodactyly; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Exaggerated median tongue furrow; Exotropia; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperplasia of the maxilla; Intellectual disability; Low-set ears; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopia; Narrow palate; Open mouth; Optic atrophy; Pectus carinatum; Phenotypic variability; Posteriorly rotated ears; Scoliosis; Strabismus; Thoracic kyphoscoliosis; Vertebral fusion; Wide nasal bridge
SOX512p12.1100%gene with protein product6049752-3 toe syndactyly; Abnormality of brain morphology; Anxiety; Autosomal dominant inheritance; Bulbous nose; Clinodactyly; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Exaggerated median tongue furrow; Exotropia; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperplasia of the maxilla; Intellectual disability; Low-set ears; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopia; Narrow palate; Open mouth; Optic atrophy; Pectus carinatum; Phenotypic variability; Posteriorly rotated ears; Scoliosis; Strabismus; Thoracic kyphoscoliosis; Vertebral fusion; Wide nasal bridge
TAF67q22.1100%gene with protein product602955TAF2EAutosomal recessive inheritance; Broad hallux; Cryptorchidism; Dental crowding; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Intellectual disability; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Narrow mouth; Neonatal hypotonia; Poor speech; Prominent nasal bridge; Prominent nose; Short stature; Synophrys; Thick eyebrow; Thin upper lip vermilion; Underdeveloped nasal alae
TECPR214q32.33100%gene with protein product615000KIAA0329Areflexia; Autosomal recessive inheritance; Brachycephaly; Broad neck; Central apnea; Cerebral atrophy; Dental crowding; Dysarthria; Dysmetria; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypomimic face; Hypoplasia of the corpus callosum; Low anterior hairline; Microcephaly; Round face; Short neck; Short stature; Spastic gait; Spastic paraplegia
TRIM3717q22100%gene with protein product605073MULAbsent frontal sinuses; Astigmatism; Autosomal recessive inheritance; Cachexia; Congestive heart failure; Dental crowding; Depressed nasal bridge; Dolichocephaly; Dysarthria; Frontal bossing; Hepatomegaly; High pitched voice; Hypertelorism; Hypodontia; Hypoplastic frontal sinuses; Intrauterine growth retardation; J-shaped sella turcica; Macrocephaly; Microglossia; Muscular hypotonia; Myocardial fibrosis; Nephroblastoma; Nevus; Pericardial constriction; Pigmentary retinopathy; Reduced tendon reflexes; Short stature; Strabismus; Triangular face; Ventriculomegaly; Weak voice; Wide nasal bridge
TRIO5p15.299.85%gene with protein product6018932-3 toe syndactyly; Aggressive behavior; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Brachydactyly; Clinodactyly; Delayed speech and language development; Dental crowding; Downslanted palpebral fissures; High forehead; High palate; Hypodontia; Macrotia; Microcephaly; Micrognathia; Motor delay; Obsessive-compulsive behavior; Phenotypic variability; Poor speech; Short nose; Synophrys; Tapered finger; Thick eyebrow; Thick vermilion border; Upslanted palpebral fissure
TRPS18q23.3100%gene with protein product604386Abnormality of the nervous system; Abnormally low-pitched voice; Accelerated bone age after puberty; Aplasia/Hypoplasia of the mandible; Arthralgia; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bone pain; Bulbous nose; Camptodactyly of finger; Carious teeth; Chin with horizontal crease; Clinodactyly of the 5th finger; Concave nail; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphyses of the proximal phalanges of the hand; Cone-shaped epiphysis; Coxa magna; Deep philtrum; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Fine hair; Flat capital femoral epiphysis; Fragile nails; Frontal bossing; Generalized hypotonia; High palate; Hyperlordosis; Increased number of teeth; Infantile muscular hypotonia; Intellectual disability; Ivory epiphyses of the distal phalanges of the hand; Joint dislocation; Joint hyperflexibility; Leukonychia; Long philtrum; Long upper lip; Low-set, posteriorly rotated ears; Macrotia; Microdontia; Micrognathia; Multiple long-bone exostoses; Muscular hypotonia; Narrow palate; Osteoarthritis; Osteopenia; Pear-shaped nose; Pectus carinatum; Pes planus; Protruding ear; Recurrent respiratory infections; Redundant skin; Scapular winging; Scoliosis; Short distal phalanx of finger; Short finger; Short foot; Short metacarpal; Short metatarsal; Short palm; Short phalanx of finger; Short stature; Shortening of all phalanges of fingers; Slow-growing hair; Smooth philtrum; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Swelling of proximal interphalangeal joints; Thick eyebrow; Thin eyebrow; Thin nail; Thin upper lip vermilion; Triangular face; Underdeveloped nasal alae
WNT5A3p14.3100%gene with protein product164975Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide noseDisorders of Sex Development
ZMPSTE241p34.2100%gene with protein product606480Abnormal cellular phenotype; Abnormal trabecular bone morphology; Abnormality of the dentition; Abnormality of the fingertips; Abnormality of the neck; Abnormality of the pinna; Absence of pubertal development; Absent eyelashes; Acroosteolysis of distal phalanges (feet); Adrenal hypoplasia; Alopecia; Aminoaciduria; Angina pectoris; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brittle hair; Broad-based gait; Calcinosis; Choanal atresia; Congenital pseudoarthrosis of the clavicle; Convex nasal ridge; Craniofacial disproportion; Cyanosis; Decreased adipose tissue around neck; Decreased calvarial ossification; Decreased fetal movement; Decreased serum estradiol; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dermal atrophy; Dermal translucency; Downslanted palpebral fissures; Entropion; Epidermal hyperkeratosis; Failure to thrive; Flexion contracture; Generalized hyperkeratosis; Generalized lipodystrophy; Glucose intolerance; Hepatic steatosis; Heterogeneous; High palate; High pitched voice; Hydropic placenta; Hyperglycemia; Hyperinsulinemia; Hyperlipidemia; Hypermetropia; Hyperphosphatemia; Hyperpigmentation of the skin; Hypertelorism; Hypertension; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hypospadias; Hypotrichosis; Increased anterioposterior diameter of thorax; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intrauterine growth retardation; Joint stiffness; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Lack of skin elasticity; Large fontanelles; Lipoatrophy; Loss of facial adipose tissue; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Metaphyseal widening; Micrognathia; Mottled pigmentation; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Osteoarthritis; Osteolytic defects of the distal phalanges of the hand; Osteopenia; Osteoporosis; Overtubulated long bones; Ovoid vertebral bodies; Patent ductus arteriosus; Polyhydramnios; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature rupture of membranes; Progeroid facial appearance; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Proptosis; Pulmonary hypoplasia; Reticulated skin pigmentation; Rocker bottom foot; Scaling skin; Sensorineural hearing impairment; Short clavicles; Short distal phalanx of finger; Short nail; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short umbilical cord; Skin erosion; Small placenta; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Stiff skin; Stillbirth; Structural foot deformity; Submucous cleft hard palate; Tapering pointed ends of distal finger phalanges; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Ureteral duplication; Widely patent fontanelles and sutures; Wormian bonesHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis


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