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Phenotypes
2-3 toe syndactyly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARCN111q23.3100%gene with protein product600820COPD2-3 toe syndactyly; Accelerated skeletal maturation; Astigmatism; Autosomal dominant inheritance; Cleft palate; Coxa valga; Failure to thrive; Gait ataxia; High palate; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Metaphyseal widening; Microcephaly; Micrognathia; Micropenis; Motor delay; Myopia; Obstructive sleep apnea; Retrognathia; Rhizomelia; Scaphocephaly; Scrotal hypoplasia; Seizures; Ventricular septal defect
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
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
BHLHA917p13.3100%gene with protein product6154162-3 toe syndactyly; 3-4 finger syndactyly; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Camptodactyly; Clinodactyly of the 5th finger; Cutaneous syndactyly; Finger syndactyly; Limitation of joint mobility; Metacarpal synostosis; Polydactyly; Proximal/middle symphalangism of 5th finger; Short hallux; Short palm; Short thumb; Single transverse palmar crease; Small nail; Split hand; Symphalangism affecting the phalanges of the hallux; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Toenail dysplasia
BMP220p12.3100%gene with protein product112261BMP2A2-3 toe syndactyly; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Autosomal dominant inheritance; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Clinodactyly of the 5th finger; Downslanted palpebral fissures; Epicanthus; Global developmental delay; Hallux valgus; Hypertelorism; Hypoplasia of the maxilla; Macrocephaly; Malar flattening; Medially deviated second toe; Narrow mouth; Radial deviation of the 2nd finger; Short 2nd finger; Short foot; Short hallux; Short middle phalanx of the 5th finger; Short stature; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Ulnar deviation of the 2nd finger; Wolff-Parkinson-White syndrome
BMPR1B4q22.3100%gene with protein product6032482-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia of the middle phalanges of the toes; Aplasia of the proximal phalanges of the hand; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad foot; Broad hallux; Carpal synostosis; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Cone-shaped epiphysis; Delayed speech and language development; Disproportionate short-limb short stature; Fibular aplasia; Fibular hypoplasia; Hallux valgus; Hypergonadotropic hypogonadism; Hypoplasia of the ulna; Hypoplasia of the uterus; Joint stiffness; Limitation of joint mobility; Medially deviated second toe; Micromelia; Narrow nasal bridge; Poor motor coordination; Postaxial hand polydactyly; Primary amenorrhea; Pseudoepiphyses of the 2nd finger; Radial deviation of finger; Radial deviation of the 2nd finger; Sarcoma; Short 2nd finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the thumb; Short femoral neck; Short finger; Short foot; Short hallux; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short proximal phalanx of finger; Short proximal phalanx of thumb; Short stature; Short thumb; Short tibia; Short toe; Skeletal dysplasia; Stippling of the epiphysis of the distal phalanx of the thumb; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Widened proximal tibial metaphyses
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CEP5510q23.3399.97%gene with protein product610000C10orf32-3 toe syndactyly; Autosomal recessive inheritance; Hydranencephaly; Renal agenesis; Renal dysplasia; Renal hypoplasia
CLCF111q13.299.96%gene with protein product6076722-3 toe syndactyly; Abnormality of the foot; Anteverted nares; Autosomal recessive inheritance; Camptodactyly of finger; Clinodactyly; Cognitive impairment; Cubitus valgus; Death in infancy; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; High palate; Hyperhidrosis; Hypertonia; Hypohidrosis; Kyphosis; Large face; Limitation of joint mobility; Limited elbow extension; Long philtrum; Lumbar hyperlordosis; Malignant hyperthermia; Protruding ear; Radial deviation of finger; Respiratory insufficiency; Scoliosis; Sensorimotor neuropathy; Sudden cardiac death; Thoracolumbar scoliosis; Wide nose
COL4A3BP5q13.3100%gene with protein product6046772-3 toe syndactyly; Anteverted nares; Autosomal dominant inheritance; Bilateral ptosis; Broad-based gait; Bruxism; Coarse hair; Cortical visual impairment; Curly hair; Drooling; Epicanthus; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Intellectual disability; Muscular hypotonia of the trunk; Myopathic facies; Oligohydramnios; Postnatal microcephaly; Short foot; Smooth philtrum; Stereotypy; Synophrys; Upslanted palpebral fissure; Wide intermamillary distance; Widely spaced teeth
DDX1112p11.21100%gene with protein product6011502-3 toe syndactyly; Autosomal recessive inheritance; Cupped ear; Cutis marmorata; Epicanthus; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hypoplasia of the cochlea; Intellectual disability; Intrauterine growth retardation; Microcephaly; Optic nerve coloboma; Single transverse palmar crease; Sloping forehead; Small face; Ventricular septal defect; Wide mouth
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
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
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
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
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
HOXD132q31.1100%gene with protein product142989HOX4I, SPD2-3 toe syndactyly; 2nd-5th toe middle phalangeal hypoplasia; 3-4 finger syndactyly; 3-4 toe syndactyly; 4-5 toe syndactyly; 6 metacarpals; Abnormal cardiac septum morphology; Abnormal vertebral morphology; Abnormality of the nasopharynx; Abnormality of the ribs; Abnormality of the sternum; Absent distal interphalangeal creases; Absent radius; Anal atresia; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Brachydactyly; Broad distal phalanx of the hallux; Broad distal phalanx of the thumb; Broad hallux; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Choanal atresia; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Contracture of the proximal interphalangeal joint of the 5th finger; Cutaneous finger syndactyly; Ectopic kidney; Enlarged proximal interphalangeal joints; Esophageal atresia; Failure to thrive; Finger syndactyly; Fused fourth and fifth metacarpals; Hallux valgus; Hydronephrosis; Hypoplasia of the radius; Hypospadias; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Large fontanelles; Laryngeal stenosis; Laryngomalacia; Mesoaxial hand polydactyly; Metacarpal synostosis; Metatarsal synostosis; Moderately short stature; Multiple impacted teeth; Occipital encephalocele; Oligodactyly; Patent ductus arteriosus; Patent urachus; Polyhydramnios; Postaxial foot polydactyly; Postnatal growth retardation; Preaxial polydactyly; Premature birth; Radioulnar synostosis; Renal agenesis; Renal dysplasia; Round face; Scoliosis; Short 5th metacarpal; Short clavicles; Short distal phalanx of finger; Short fifth metatarsal; Short metacarpal; Short metatarsal; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short stature; Short thumb; Single umbilical artery; Spina bifida; Sporadic; Straight clavicles; Symphalangism affecting the phalanges of the hand; Syndactyly; Tethered cord; Tetralogy of Fallot; Toe syndactyly; Tracheal stenosis; Tracheoesophageal fistula; Transposition of the great arteries; Triphalangeal thumb; Type D brachydactyly; Type E brachydactyly; Ulnar deviation of finger; Ureteropelvic junction obstruction; Ventricular septal defect; Vertebral segmentation defect; Vesicoureteral reflux; Y-shaped metacarpalsHeterotaxy ; VACTERL Association
KCTD118q11.2100%gene with protein product613420C18orf52-3 toe syndactyly; 3-4 finger cutaneous syndactyly; Abnormality of the antihelix; Abnormality of the endocrine system; Abnormality of the fingernails; Abnormality of the scalp; Abnormality of the skin; Abnormality of the thorax; Agenesis of permanent teeth; Aplasia/Hypoplasia of the nipples; Autosomal dominant inheritance; Breast aplasia; Cataract; Cupped ear; Delayed eruption of teeth; Depressed nasal bridge; Hypertension; Low-set ears; Microtia; Nail dysplasia; Palpebral edema; Protruding ear; Recurrent urinary tract infections; Small earlobe; Sparse hair; Telecanthus; Type I diabetes mellitus; Underdeveloped antitragus; Underdeveloped tragusHeterotaxy
LMBR17q36.398.68%gene with protein product605522C7orf21-5 finger complete cutaneous syndactyly; 1-5 finger syndactyly; 2-3 toe syndactyly; 6 metacarpals; Abnormal heart morphology; Abnormality of epiphysis morphology; Abnormality of the face; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the wrist; Absent forearm; Absent hand; Absent metatarsal bone; Absent radius; Absent tibia; Absent toe; Aplasia of metacarpal bones; Aplasia of the phalanges of the hand; Aplasia of the tarsal bones; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad foot; Camptodactyly of finger; Carpal bone aplasia; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Depressed nasal ridge; Duplication of phalanx of hallux; Duplication of thumb phalanx; Fibular aplasia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Increased fibular diameter; Limb duplication; Limitation of joint mobility; Lower limb peromelia; Mirror image polydactyly; Opposable triphalangeal thumb; Patellar aplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial hand polydactyly; Prominent nose; Short columella; Short foot; Short humerus; Short tibia; Supernumerary metacarpal bones; Syndactyly; Talipes; Tarsal synostosis; Toe syndactyly; Triphalangeal thumb; Underdeveloped nasal alae; Upper limb phocomelia
MEIS215q14100%gene with protein product6017402-3 toe syndactyly; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Biparietal narrowing; Broad hallux; Broad thumb; Cleft palate; Cleft upper lip; Coarctation of aorta; Deeply set eye; Delayed speech and language development; Gastroesophageal reflux; Global developmental delay; High anterior hairline; Highly arched eyebrow; Intellectual disability; Large forehead; Microcephaly; Narrow forehead; Pointed chin; Sandal gap; Short 2nd finger; Short 5th finger; Short philtrum; Short stature; Smooth philtrum; Sparse eyebrow; Tented upper lip vermilion; Upslanted palpebral fissure; Ventricular septal defect
NEDD4L18q21.3199.5%gene with protein product6063842-3 toe syndactyly; Autosomal dominant inheritance; Cleft palate; Congenital onset; Cryptorchidism; Global developmental delay; Intellectual disability; Micrognathia; Muscular hypotonia of the trunk; Strabismus
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NOG17q22100%gene with protein product602991SYNS1, SYM12-3 toe syndactyly; Abnormal vertebral morphology; Abnormality of the ankles; Absent distal interphalangeal creases; Absent distal phalanges; Absent fingernail; Absent phalangeal crease; Anonychia; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanges of the toes; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Conductive hearing impairment; Cone-shaped epiphysis; Congenital stapes ankylosis; Cubitus valgus; Cutaneous finger syndactyly; Cutaneous syndactyly of toes; Dislocated radial head; Elbow ankylosis; Elbow dislocation; Enlargement of the costochondral junction; Finger syndactyly; Fusion of midphalangeal joints; Hypermetropia; Hypoplastic nasal septum; Hypoplastic spinal processes; Joint stiffness; Long nose; Low hanging columella; Lower limb undergrowth; Metacarpophalangeal synostosis; Narrow face; Pectus excavatum; Progressive conductive hearing impairment; Progressive fusion 2nd-5th pip joints; Proximal placement of thumb; Proximal symphalangism; Proximal symphalangism of hands; Proximal/middle symphalangism of 5th finger; Radial deviation of finger; Sensorineural hearing impairment; Short 1st metacarpal; Short 5th metacarpal; Short distal phalanx of finger; Short distal phalanx of toe; Short finger; Short foot; Short hallux; Short humerus; Short lower limbs; Short palm; Short philtrum; Short stature; Short sternum; Single transverse palmar crease; Spinal canal stenosis; Stapes ankylosis; Strabismus; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Tarsal synostosis; Thick upper lip vermilion; Thin upper lip vermilion; Toe syndactyly; Type B brachydactyly; Underdeveloped nasal alae; Waddling gait
PIGY4q22.1100%gene with protein product6106622-3 toe syndactyly; Anteverted nares; Autosomal recessive inheritance; Bulbous nose; Clinodactyly; Congenital cataract; Congenital onset; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Echogenic fetal bowel; EEG with multifocal slow activity; Elbow flexion contracture; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; Growth delay; High palate; Hip contracture; Hip dysplasia; Hyperactivity; Inguinal hernia; Knee flexion contracture; Large earlobe; Limb undergrowth; Long palpebral fissure; Microcephaly; Muscular hypotonia of the trunk; Narrow forehead; Osteopenia; Polyhydramnios; Prominent nasal tip; Seizures; Short neck; Shortening of all distal phalanges of the fingers; Strabismus; Thickened helices; Vomiting; Wide mouth
RBPJ4p15.2100%gene with protein product147183IGKJRB1, RBPSUH2-3 toe syndactyly; Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal dominant inheritance; Brachydactyly; Calvarial skull defect; Cataract; Cutis marmorata; Failure to thrive; Finger syndactyly; Hydrocephalus; Microcephaly; Microphthalmia; Pulmonary artery atresia; Short distal phalanx of finger; Short metatarsal; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
SLC12A615q1499.94%gene with protein product604878KCC3, ACCPN2-3 toe syndactyly; Agenesis of corpus callosum; Aqueductal stenosis; Areflexia; Autosomal recessive inheritance; Axonal degeneration/regeneration; Brachycephaly; Decreased motor nerve conduction velocity; Decreased sensory nerve conduction velocity; EEG abnormality; EMG: chronic denervation signs; Facial asymmetry; Facial diplegia; Flexion contracture; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; High palate; Hypertelorism; Hypoplasia of the maxilla; Increased CSF protein; Intellectual disability; Limb muscle weakness; Limb tremor; Long face; Low anterior hairline; Macrotia; Microcephaly; Motor delay; Motor polyneuropathy; Narrow forehead; Neonatal hypotonia; Onion bulb formation; Peripheral axonal neuropathy; Polyneuropathy; Progressive; Psychosis; Ptosis; Respiratory tract infection; Restrictive deficit on pulmonary function testing; Scoliosis; Seizures; Sensory neuropathy; Short nose; Skeletal muscle atrophy; Tapered finger; Ventriculomegaly; Wide nasal bridge
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
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
TBX151p12100%gene with protein product604127TBX142-3 toe syndactyly; 4-5 toe syndactyly; Abnormal facial shape; Abnormality of the joint spaces of the elbow; Abnormality of the pinna; Abnormality of the skull base; Absent proximal finger flexion creases; Alveolar ridge overgrowth; Ambiguous genitalia, female; Ambiguous genitalia, male; Anterior rounding of vertebral bodies; Autosomal recessive inheritance; Bell-shaped thorax; Blepharophimosis; Brachydactyly; Camptodactyly; Cleft palate; Clinodactyly of the 5th finger; Congenital hip dislocation; Deeply set eye; Dislocated radial head; Elbow flexion contracture; Facial hirsutism; Fibular aplasia; Frontal bossing; Hearing impairment; Humeroradial synostosis; Hydranencephaly; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint contracture of the hand; Long clavicles; Low posterior hairline; Low-set ears; Macrocephaly; Mesomelia; Mesomelic leg shortening; Microcornea; Microglossia; Micrognathia; Microphthalmia; Microtia, first degree; Prominent protruding coccyx; Redundant neck skin; Rhizomelia; Short femur; Short neck; Short palpebral fissure; Short stature; Stenosis of the external auditory canal; Strabismus; Talipes equinovarus; Toe syndactyly; Wrist flexion contractureDisorders of Sex Development
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
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
TXNL4A18q23100%gene with protein product611595TXNL42-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormality of metabolism/homeostasis; Atrial septal defect; Autosomal recessive inheritance; Bifid uvula; Bilateral choanal atresia; Bilateral choanal atresia/stenosis; Blepharophimosis; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Feeding difficulties in infancy; Hypertelorism; Hypomimic face; Lower eyelid coloboma; Mandibular prognathia; Micrognathia; Narrow mouth; Preauricular skin tag; Prominent nasal bridge; Protruding ear; Renal hypoplasia; Short palpebral fissure; Short philtrum; Thin vermilion border; Underdeveloped nasal alae; Ventricular septal defect


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