XomeDxSlice Tool

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

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Phenotypes
Coronal craniosynostosis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
CCBE118q21.32100%gene with protein product612753Abnormality of dental morphology; Ascites; Atrial septal defect; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Camptodactyly; Conductive hearing impairment; Conical incisor; Coronal craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Ectopic kidney; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hirsutism; Horseshoe kidney; Hydronephrosis; Hyperactivity; Hypertelorism; Hypoalbuminemia; Hypoplastic iliac wing; Increased number of teeth; Intellectual disability; Intestinal lymphangiectasia; Joint contracture of the hand; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Mild postnatal growth retardation; Narrow chest; Narrow mouth; Narrow palate; Oligodontia; Pachygyria; Pectus excavatum; Pericardial effusion; Pericardial lymphangiectasia; Periorbital edema; Pleural effusion; Pleural lymphangiectasia; Protein-losing enteropathy; Rectal prolapse; Recurrent respiratory infections; Reduced number of teeth; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short foot; Short palm; Small hand; Smooth philtrum; Spina bifida occulta; Splenomegaly; Talipes equinovarus; Thyroid lymphangiectasia; Umbilical hernia; Ventricular septal defect; Vesicoureteral reflux; Wide nasal bridge
EFNB1Xq13.1100%gene with protein product300035EPLG2, CFNSAbnormality of the dentition; Abnormality of the rib cage; Axillary pterygia; Bifid nasal tip; Brachycephaly; Brachydactyly; Broad hallux; Broad hallux phalanx; Camptodactyly of finger; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Congenital pseudoarthrosis of the clavicle; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Depressed nasal ridge; Down-sloping shoulders; Downslanted palpebral fissures; Exotropia; Facial asymmetry; Finger syndactyly; Fragile nails; Frontal bossing; Generalized hypotonia; Global developmental delay; Hand polydactyly; Hemihypotrophy of lower limb; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic nasal tip; Hypospadias; Intellectual disability; Joint hyperflexibility; Joint laxity; Low posterior hairline; Microcephaly; Midline defect of the nose; Muscular hypotonia; Nystagmus; Oral cleft; Pectus excavatum; Plagiocephaly; Ridged fingernail; Ridged nail; Sandal gap; Scoliosis; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short stature; Split nail; Sprengel anomaly; Telecanthus; Thickened nuchal skin fold; Toe syndactyly; Umbilical hernia; Unilateral breast hypoplasia; Wide nasal bridge; Woolly hair; X-linked dominant inheritance
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
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
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
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
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
GTF2E28p1299.5%gene with protein product189964Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Brittle hair; Coronal craniosynostosis; Dry skin; Esotropia; Intellectual disability, moderate; Long-tract signs; Microcephaly; Mild intrauterine growth retardation; Motor delay; Short stature; Slow-growing hair; Small for gestational age; Tiger tail bandingPalmoplantar keratoderma plus congenital ichthyosis
IL11RA9p13.3100%gene with protein product600939Autosomal recessive inheritance; Coronal craniosynostosis; Delayed eruption of teeth; Hypoplasia of the maxilla; Papilledema; Sagittal craniosynostosis
IMPAD18q12.1100%gene with protein product614010Autosomal recessive inheritance; Brachydactyly; Coronal craniosynostosis; Flat face; Genu valgum; Hearing impairment; High forehead; Micrognathia; Narrow mouth; Patellar dislocation; Proptosis; Short foot; Short metacarpal; Short nose; Short stature; Short toe; Wide nasal bridge
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
P4HB17q25.3100%gene with protein product176790PO4DB, ERBA2LAbnormal form of the vertebral bodies; Abnormality of dental enamel; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the voice; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Communicating hydrocephalus; Coronal craniosynostosis; Crumpled long bones; Delayed eruption of teeth; Frontal bossing; High pitched voice; Intrauterine growth retardation; Kyphosis; Microdontia; Micrognathia; Midface retrusion; Muscular hypotonia; Orbital craniosynostosis; Osteopenia; Proptosis; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Skeletal dysplasia; Turricephaly; Vertebral compression fractures; Wormian bones
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
RAB236p12.1-p11.299.17%gene with protein product606144Abnormal cornea morphology; Abnormality of the pinna; Agenesis of permanent teeth; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the middle phalanges of the toes; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad thumb; Camptodactyly; Cerebral atrophy; Clinodactyly of the 5th finger; Cloverleaf skull; Complete duplication of proximal phalanx of the thumb; Conductive hearing impairment; Coronal craniosynostosis; Coxa valga; Craniosynostosis; Cryptorchidism; Depressed nasal bridge; Duplication of the proximal phalanx of the hallux; Epicanthus; External genital hypoplasia; Finger syndactyly; Flared iliac wings; Genu valgum; Genu varum; High palate; Hydronephrosis; Hydroureter; Hypoplasia of the maxilla; Intellectual disability; Joint contracture of the hand; Lambdoidal craniosynostosis; Large foramen magnum; Lateral displacement of patellae; Low-set ears; Malar flattening; Metatarsus adductus; Microcornea; Micrognathia; Midface retrusion; Obesity; Omphalocele; Opacification of the corneal stroma; Optic atrophy; Oxycephaly; Patent ductus arteriosus; Persistence of primary teeth; Polysplenia; Postaxial hand polydactyly; Preauricular pit; Preaxial foot polydactyly; Precocious puberty; Pseudoepiphyses of the proximal phalanges of the hand; Pulmonic stenosis; Sacral dimple; Sagittal craniosynostosis; Scoliosis; Sensorineural hearing impairment; Shallow acetabular fossae; Short neck; Short stature; Spina bifida occulta; Telecanthus; Tetralogy of Fallot; Toe syndactyly; Transposition of the great arteries; Umbilical hernia; Underdeveloped supraorbital ridges; Ventricular septal defectObesity
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
SEC24D4q2699.99%gene with protein product607186Abnormal form of the vertebral bodies; Abnormality of dental enamel; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the voice; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Communicating hydrocephalus; Coronal craniosynostosis; Crumpled long bones; Delayed eruption of teeth; Downslanted palpebral fissures; Frontal bossing; High palate; High pitched voice; Hydrocephalus; Hypertelorism; Intrauterine growth retardation; Kyphosis; Lambdoidal craniosynostosis; Macrocephaly; Micrognathia; Microretrognathia; Midface retrusion; Muscular hypotonia; Oligohydramnios; Osteopenia; Pectus excavatum; Platyspondyly; Postnatal growth retardation; Proptosis; Recurrent fractures; Scoliosis; Short stature; Skeletal dysplasia; Thin ribs; Triangular face; Turricephaly; Wormian bones
SLC25A241p13.3100%gene with protein product608744Abnormal dermatoglyphics; Abnormality of the foot; Abnormality of the metacarpal bones; Abnormality of the nail; Abnormality of vision; Aplasia/Hypoplasia of the nasal bone; Astigmatism; Brachycephaly; Brittle hair; Broad forehead; Coarse hair; Conductive hearing impairment; Congenital craniofacial dysostosis; Coronal craniosynostosis; Decreased skull ossification; Epicanthus; Everted lower lip vermilion; Failure to thrive; Generalized hirsutism; Hypertelorism; Hypoplasia of the maxilla; Intrauterine growth retardation; Lipoatrophy; Long eyelashes in irregular rows; Low anterior hairline; Low-set, posteriorly rotated ears; Mandibular prognathia; Nystagmus; Oligodontia; Patent ductus arteriosus; Prematurely aged appearance; Reduced number of teeth; Reduced subcutaneous adipose tissue; Redundant skin; Sclerocornea; Shagreen patch; Short distal phalanx of finger; Short stature; Sparse hair; Strabismus; Thick eyebrow; Umbilical hernia; Underdeveloped supraorbital ridges; Wide anterior fontanel
TWIST17p21.199.38%gene with protein product601622ACS3, BPES3, TWIST, CRSAbnormal heart morphology; Abnormal morphology of the nasolacrimal system; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Absent first metatarsal; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharospasm; Brachycephaly; Brachydactyly; Breast carcinoma; Broad forehead; Broad hallux; Buphthalmos; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Convex nasal ridge; Coronal craniosynostosis; Craniosynostosis; Delayed cranial suture closure; Depressed nasal bridge; Dolichocephaly; Duplication of phalanx of hallux; External ear malformation; Facial asymmetry; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Hallux valgus; Hearing impairment; High forehead; Hyperlordosis; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Intellectual disability, moderate; Lambdoidal craniosynostosis; Long nose; Low anterior hairline; Low-set ears; Malar flattening; Microtia; Narrow internal auditory canal; Narrow nose; Narrow palate; Open bite; Oxycephaly; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Plagiocephaly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radioulnar synostosis; Scaphocephaly; Shallow orbits; Short stature; Skull asymmetry; Strabismus; Toe syndactyly; Turricephaly; Underdeveloped supraorbital ridges; Variable expressivity; Visual field defect
ZIC13q24100%gene with protein product600470Agenesis of corpus callosum; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Cerebellar atrophy; Coronal craniosynostosis; Craniosynostosis; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertelorism; Increased intracranial pressure; Intellectual disability, moderate; Intellectual disability, severe; Oxycephaly; Papilledema; Plagiocephaly; Proptosis; Sagittal craniosynostosis; Strabismus; Underdeveloped supraorbital ridges; Visual field 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