XomeDxSlice Tool

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

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Phenotypes
Hypotelorism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
AP3D119p13.398.52%gene with protein product607246Aplasia/Hypoplasia of the macula; Astigmatism; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Dystonia; EEG abnormality; Feeding difficulties; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hepatomegaly; Hypotelorism; Immunodeficiency; Infantile onset; Interstitial pulmonary abnormality; Low-set ears; Macrotia; Microcephaly; Miosis; Muscular hypotonia of the trunk; Neutropenia; Nystagmus; Ocular albinism; Photophobia; Recurrent respiratory infections; Retrognathia; Smooth philtrum; Splenomegaly; Strabismus; Visual impairmentAlbinism
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
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
CDON11q24.299.99%gene with protein product608707Agenesis of corpus callosum; Autosomal dominant inheritance; Cleft lip; Cleft palate; Delayed puberty; Ectopic posterior pituitary; Failure to thrive; Global developmental delay; Holoprosencephaly; Hypoglycemia; Hypoplasia of penis; Hypotelorism; Hypothyroidism; Microcephaly; Polysplenia; Proptosis; Short stature; Sporadic; Synophrys; Thick eyebrow; Variable expressivity
DPM29q34.11100%gene with protein product603564Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; High palate; Hypotelorism; Micrognathia; Myopathic facies; Optic atrophy; Postnatal microcephaly; Primitive reflex; Scoliosis; Seizures; Severe muscular hypotonia; Short nose; Strabismus; Thin upper lip vermilionRhabdomyolysis
DYRK1A21q22.13100%gene with protein product600855DYRK1, DYRK, MNBHAtaxia; Autism; Autosomal dominant inheritance; Bulbous nose; Cerebral cortical atrophy; Deeply set eye; Delayed speech and language development; Failure to thrive in infancy; Febrile seizures; Gait disturbance; Generalized hypotonia; Hallux valgus; Hyperactivity; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Macrotia; Microcephaly; Micrognathia; Narrow forehead; Severe global developmental delay; Small for gestational age; Thickened helices
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
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
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
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
FREM19p22.3100%gene with protein product608944C9orf154Abnormal hair pattern; Abnormality of the 5th toe; Abnormality of the hair; Abnormality of the kidney; Anal stenosis; Anophthalmia; Anteriorly placed anus; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nose; Bulbous nose; Eyelid coloboma; Hypertelorism; Hypotelorism; Metopic synostosis; Microphthalmia; Nasolacrimal duct obstruction; Omphalocele; Prominent supraorbital ridges; Rectovaginal fistula; Renal agenesis; Short lingual frenulum; Short philtrum; Synophrys; Trigonocephaly; Upper eyelid coloboma; Wide nasal bridgeCongenital Kidney and Urinary Tract (CKUT) Anomalies; Ectodermal Dysplasia ; Fanconi Anemia
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GLI22q14.299.99%gene with protein product165230Abnormal cortical gyration; Abnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of incisor; Amenorrhea; Anophthalmia; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Bilateral cleft lip and palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Global developmental delay; Growth hormone deficiency; Holoprosencephaly; Hydrocephalus; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypopituitarism; Hypoplasia of the maxilla; Hypoplasia of the premaxilla; Hypotelorism; Hypotension; Incomplete penetrance; Infertility; Macrotia; Malar flattening; Microcephaly; Micropenis; Microphthalmia; Midface retrusion; Optic nerve hypoplasia; Osteopenia; Panhypopituitarism; Partial agenesis of the corpus callosum; Pituitary hypothyroidism; Postaxial hand polydactyly; Prominent antihelix; Seizures; Short hard palate; Short philtrum; Short stature; Single median maxillary incisor; Single naris; Sporadic; Underdeveloped tragus; Variable expressivity
GSC14q32.13100%gene with protein product138890Atresia of the external auditory canal; Autosomal recessive inheritance; Conductive hearing impairment; Congenital onset; Cryptorchidism; Deeply set eye; Delayed ossification of pubic rami; Dislocated radial head; Downslanted palpebral fissures; Feeding difficulties; Flexion contracture; High palate; Hip dislocation; Hypoplastic scapulae; Hypotelorism; Malar flattening; Micrognathia; Narrow mouth; Preauricular pit; Rhizomelia; Scapulohumeral synostosis; Short humerus; Talipes equinovarus
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT4314q24.3100%gene with protein product614068C14orf179Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad nail; Craniosynostosis; Cutis laxa; Dolichocephaly; Dry skin; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fine hair; Finger syndactyly; Frontal bossing; Hypodontia; Hypoplasia of teeth; Hypotelorism; Joint hyperflexibility; Joint laxity; Microdontia; Narrow chest; Nephronophthisis; Osteoporosis; Pectus excavatum; Prominent occiput; Rhizomelia; Short distal phalanx of finger; Short nail; Short stature; Sparse hair; Syndactyly; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-Rib Thoracic Dysplasia
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
NDPXp11.3100%gene with protein product300658EVR2Abnormal chorioretinal morphology; Abnormal cochlea morphology; Abnormal macular morphology; Abnormality of the retinal vasculature; Aggressive behavior; Anterior chamber synechiae; Anxiety; Aplasia/Hypoplasia of the lens; Blindness; Cataract; Deeply set eye; Dementia; Erectile abnormalities; Exudative vitreoretinopathy; Falciform retinal fold; Glaucoma; Hallucinations; Hypoplasia of the iris; Hypotelorism; Intellectual disability, progressive; Intraretinal exudate; Irritability; Macrotia; Microphthalmia; Narrow nasal bridge; Neoplasm of the eye; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Peripheral vitreous opacities; Premature birth; Psychosis; Reduced visual acuity; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal fold; Sclerocornea; Seizures; Sensorineural hearing impairment; Shallow anterior chamber; Small for gestational age; Stereotypy; Strabismus; Subretinal exudate; Vascular neoplasm; Venous insufficiency; X-linked recessive inheritance
NIN14q22.197.5%gene with protein product608684Autosomal recessive inheritance; Central hypothyroidism; Delayed skeletal maturation; Hip dysplasia; Hypoplasia of the uterus; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Lumbar scoliosis; Madelung deformity; Microcephaly; Microtia; Primary amenorrhea; Prominent nose; Seizures; Severe global developmental delay; Severe short stature
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PROKR220p12.3100%gene with protein product607123GPR73L1, KAL3Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Agenesis of corpus callosum; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cleft palate; Cleft upper lip; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes planus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Seizures; Septo-optic dysplasia; Short stature; Sparse body hair; Strabismus; Unilateral renal agenesis; Visual impairment; Wide intermamillary distanceDisorders of Sex Development
PTCH19q22.32100%gene with protein product601309NBCCS, PTCHAbnormality of the neck; Abnormality of the ribs; Abnormality of the sternum; Absent nasal septal cartilage; Accelerated skeletal maturation; Agenesis of corpus callosum; Alobar holoprosencephaly; Arnold-Chiari malformation; Autosomal dominant inheritance; Basal cell carcinoma; Bifid ribs; Bilateral cleft lip and palate; Bilateral microphthalmos; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Delayed eruption of teeth; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Flat nasal alae; Flat occiput; Frontal bossing; Fusion of the left and right thalami; Glaucoma; Global developmental delay; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the premaxilla; Hypotelorism; Incomplete penetrance; Intellectual disability; Iris coloboma; Irregular ossification of hand bones; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large for gestational age; Long philtrum; Low-set ears; Macrocephaly; Macrotia; Mandibular prognathia; Median cleft lip and palate; Medulloblastoma; Melanocytic nevus; Metopic synostosis; Microphthalmia; Midface retrusion; Midline defect of the nose; Milia; Motor delay; Muscular hypotonia; Narrow mouth; Neoplasm; Odontogenic keratocysts of the jaw; Oral cleft; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Panhypopituitarism; Parietal bossing; Pectus excavatum; Plantar pits; Polydactyly; Retinopathy; Scoliosis; Seizures; Semilobar holoprosencephaly; Short 4th metacarpal; Short distal phalanx of the thumb; Short neck; Short nose; Short ribs; Single median maxillary incisor; Skin tags; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Tall stature; Thickened ears; Trigonocephaly; Umbilical hernia; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Vertebral fusion; Vertebral wedging; Wide nasal bridge
QARS3p21.3199.89%gene with protein product603727Autosomal recessive inheritance; Cerebellar vermis atrophy; Cerebral atrophy; CNS hypomyelination; Epicanthus; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypotelorism; Low-set ears; Narrow forehead; Posteriorly rotated ears; Progressive; Progressive microcephaly; Sloping forehead; Status epilepticus; Ventriculomegaly
RAB3GAP12q21.399.8%gene with protein product602536Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Deeply set eye; Delayed puberty; Depressed nasal bridge; Everted lower lip vermilion; External genital hypoplasia; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Furrowed tongue; Generalized hirsutism; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low posterior hairline; Low-set, posteriorly rotated ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Optic atrophy; Osteoporosis; Pachygyria; Prematurely aged appearance; Ptosis; Scoliosis; Short nose; Short philtrum; Short stature; Spastic diplegia; Spasticity; Ulnar deviation of finger; Wide nasal bridge
RAB3GAP21q4198.48%gene with protein product609275Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Asymmetry of the ears; Autosomal recessive inheritance; Brachycephaly; Broad fingertip; Broad nasal tip; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Congestive heart failure; Cortical visual impairment; Cryptorchidism; Delayed puberty; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Flexion contracture; Furrowed tongue; Generalized hirsutism; Global brain atrophy; Global developmental delay; High palate; Hyperlordosis; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Malar flattening; Metatarsus adductus; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Overlapping toe; Pachygyria; Pectus carinatum; Pectus excavatum; Polymicrogyria; Posteriorly rotated ears; Postnatal growth retardation; Postnatal microcephaly; Prematurely aged appearance; Prominent antitragus; Prominent nasal bridge; Prominent nipples; Recurrent respiratory infections; Scoliosis; Scrotal hypoplasia; Severe global developmental delay; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short philtrum; Short stature; Short toe; Slender ulna; Spasticity; Talipes equinovarus; Talipes valgus; Tracheomalacia; Ulnar deviation of finger; Undetectable visual evoked potentials; Wide nasal bridge
SEPT917q25.399.74%gene with protein product604061MSFArthralgia; Autosomal dominant inheritance; Axonal degeneration; Blepharophimosis; Brachial plexus neuropathy; Cleft palate; Deeply set eye; Depressed nasal bridge; EMG abnormality; Epicanthus; Facial asymmetry; Hypotelorism; Low-set ears; Muscle weakness; Narrow mouth; Paresthesia; Peripheral neuropathy; Polyneuropathy; Ptosis; Scapular winging; Short stature; Skeletal muscle atrophy; Sprengel anomaly; Upslanted palpebral fissure
SHH7q36.399.9%gene with protein product600725HPE3, HLP31-5 finger syndactyly; 6 metacarpals; Abnormality of the nose; Abnormality of vision; Autosomal dominant inheritance; Bilateral microphthalmos; Bowing of the long bones; Camptodactyly of finger; Choanal atresia; Chorioretinal coloboma; Clinodactyly of the 5th finger; Cyclopia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Holoprosencephaly; Hydronephrosis; Hypotelorism; Incomplete penetrance; Increased fibular diameter; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Malar flattening; Microcephaly; Microphthalmia; Midface retrusion; Midnasal stenosis; Narrow nasal bridge; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proboscis; Schizencephaly; Short philtrum; Short stature; Short tibia; Single median maxillary incisor; Tented upper lip vermilion; Toe syndactyly; Torus palatinus; Variable expressivity
SHH7q36.399.9%gene with protein product600725HPE3, HLP31-5 finger syndactyly; 6 metacarpals; Abnormality of the nose; Abnormality of vision; Autosomal dominant inheritance; Bilateral microphthalmos; Bowing of the long bones; Camptodactyly of finger; Choanal atresia; Chorioretinal coloboma; Clinodactyly of the 5th finger; Cyclopia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Holoprosencephaly; Hydronephrosis; Hypotelorism; Incomplete penetrance; Increased fibular diameter; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Malar flattening; Microcephaly; Microphthalmia; Midface retrusion; Midnasal stenosis; Narrow nasal bridge; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proboscis; Schizencephaly; Short philtrum; Short stature; Short tibia; Single median maxillary incisor; Tented upper lip vermilion; Toe syndactyly; Torus palatinus; Variable expressivity
SHPK17p13.2100%gene with protein product605060CARKLAbnormal CNS myelination; Abnormality of the renal tubule; Arthrogryposis multiplex congenita; Breech presentation; Cholestatic liver disease; Diastasis recti; Hepatitis; High forehead; Hip dysplasia; Hypochromic microcytic anemia; Hypotelorism; Inguinal hernia; Large fontanelles; Macrocephaly; Neonatal asphyxia; Portal hypertension; Postprandial hyperglycemia; Renal insufficiency; Severe postnatal growth retardation; Shallow orbits; Short stature; Steatorrhea; Subcortical cerebral atrophy; Ventriculomegaly
SIX32p21100%gene with protein product603714HPE2Absent nasal septal cartilage; Adrenal hypoplasia; Agenesis of corpus callosum; Anterior pituitary agenesis; Aplasia of the nose; Autosomal dominant inheritance; Bifid uvula; Cerebellar hypoplasia; Constipation; Cyclopia; Diabetes insipidus; Generalized hypotonia; Global developmental delay; Heterogeneous; Holoprosencephaly; Hypotelorism; Incomplete penetrance; Intellectual disability; Malar flattening; Median cleft lip and palate; Microcephaly; Microphthalmia; Midface retrusion; Schizencephaly; Scoliosis; Seizures; Single median maxillary incisor; Sporadic; Submucous cleft hard palate; Variable expressivity
SRC20q11.23100%gene with protein product190090SRC1Autosomal dominant inheritance; Bone marrow hypercellularity; Deeply set eye; Hereditary nonpolyposis colorectal carcinoma; Hypotelorism; Large forehead; Myelofibrosis; Neoplasm of the stomach; Renal cell carcinoma; Spontaneous, recurrent epistaxis; Thrombocytopenia; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma
TGIF118p11.31100%gene with protein product602630HPE4, TGIFAbsent nasal septal cartilage; Autosomal dominant inheritance; Depressed nasal bridge; Depressed nasal tip; Hypotelorism; Median cleft lip; Median cleft lip and palate; Ptosis; Semilobar holoprosencephaly
USP9XXp11.499.99%gene with protein product300072Abnormality of the dentition; Astigmatism; Atrial septal defect; Brachycephaly; Broad thumb; Bulbous nose; Cataract; Cleft palate; Delayed speech and language development; Depressed nasal bridge; Facial asymmetry; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hip dislocation; Hydronephrosis; Hypermetropia; Hypotelorism; Intellectual disability; Joint laxity; Long philtrum; Low-set ears; Myopia; Narrow forehead; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Posteriorly rotated ears; Prominent forehead; Prominent nose; Renal dysplasia; Respiratory distress; Short foot; Short palpebral fissure; Short stature; Small hand; Smooth philtrum; Strabismus; Tapered finger; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad distal phalanx of finger; Broad phalanx of the toes; Cataract; Chronic tubulointerstitial nephritis; Cone-shaped epiphysis; Craniosynostosis; Cutis laxa; Dolichocephaly; Ectodermal dysplasia; Elevated serum creatinine; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Full cheeks; Global developmental delay; Hepatic cysts; Hip dysplasia; Hypermetropia; Hypertension; Hypodontia; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Metaphyseal widening; Microdontia; Micromelia; Myopia; Narrow chest; Nephronophthisis; Nephropathy; Osteoporosis; Pancreatic cysts; Pectus excavatum; Pes valgus; Premature ovarian insufficiency; Progressive visual loss; Prominent occiput; Proteinuria; Reduced visual acuity; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Rhizomelia; Rod-cone dystrophy; Short distal phalanx of finger; Short foot; Short iliac bones; Short stature; Short thorax; Skeletal dysplasia; Sparse hair; Stage 5 chronic kidney disease; Thin upper lip vermilion; Thoracic dysplasia; Visual impairmentEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR352p24.199.89%gene with protein product613602Abdominal distention; Abnormal diaphysis morphology; Abnormal pelvis bone ossification; Abnormal toenail morphology; Abnormality of cardiovascular system morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the pinna; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Anteverted nares; Autosomal recessive inheritance; Blepharophimosis; Bowing of the long bones; Brachydactyly; Cleft upper lip; Congenital hepatic fibrosis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypodontia; Hypoplasia of penis; Hypoplastic scapulae; Hypospadias; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint laxity; Lethal skeletal dysplasia; Long philtrum; Low-set ears; Macrocephaly; Microdontia; Micrognathia; Micromelia; Narrow chest; Osteoporosis; Pectus excavatum; Polycystic kidney dysplasia; Polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Prominent occiput; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short distal phalanx of finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Sparse hair; Syndactyly; Telecanthus; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide nose; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity


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