XomeDxSlice Tool

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

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Phenotypes
Encephalocele

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AIPL117p13.2100%gene with protein product604392LCA4Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Encephalocele; Hemiplegia/hemiparesis; Keratoconus; Macular atrophy; Muscular hypotonia; Nyctalopia; Nystagmus; Optic disc pallor; Pendular nystagmus; Photophobia; Reduced visual acuity; Rod-cone dystrophy; Seizures; Severe visual impairment; Undetectable light- and dark-adapted electroretinogram
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
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
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
ARHGAP313q13.32-q13.100%gene with protein product610911Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Alopecia; Aortic valve stenosis; Aplasia cutis congenita; Aplasia cutis congenita on trunk or limbs; Aplasia cutis congenita over posterior parietal area; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cleft palate; Cleft upper lip; Cortical dysplasia; Cutis marmorata; Encephalocele; Esotropia; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypoplasia of the corpus callosum; Hypoplastic left heart; Imperforate hymen; Intellectual disability; Microcephaly; Microphthalmia; Pachygyria; Periventricular leukomalacia; Phenotypic variability; Polymicrogyria; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonary artery stenosis; Pulmonic stenosis; Seizures; Short distal phalanx of finger; Small nail; Sparse hair; Split hand; Strabismus; Supernumerary nipple; Talipes; Talipes equinovarus; Tetralogy of Fallot; Toe syndactyly; Ventricular septal defect; Ventriculomegaly
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
B9D219q13.2100%gene with protein product611951Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Occipital encephalocele; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Renal cyst; Sacral dimple; Sclerocornea; Sloping forehead; TalipesHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CRB11q31.3100%gene with protein product604210RP12Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Encephalocele; Esotropia; Glaucoma; Hemiplegia/hemiparesis; High hypermetropia; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paravenous chorioretinal atrophy; Pendular nystagmus; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Vitreoretinal degeneration; Wide nasal bridge
CRX19q13.33100%gene with protein product602225CORD2Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pendular nystagmus; Peripheral visual field loss; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Wide nasal bridge
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
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
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FRAS14q21.21100%gene with protein product607830Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
FREM213q13.3100%gene with protein product608945Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
GDF68q22.1100%gene with protein product601147SGM1Abnormal electroretinogram; Abnormal vertebral segmentation and fusion; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the ribs; Abnormality of the shoulder; Absent testis; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral microphthalmos; Cataract; Cervical C2/C3 vertebral fusion; Cervicomedullary schisis; Coloboma; Congenital muscular torticollis; Digenic inheritance; Encephalocele; Facial asymmetry; Hearing impairment; Hemiplegia/hemiparesis; Heterogeneous; Hypoplasia of the fovea; Keratoconus; Limited neck range of motion; Low posterior hairline; Microphthalmia; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Scoliosis; Seizures; Severe visual impairment; Short neck; Sprengel anomaly; Variable expressivity; Visual impairment; Webbed neck
GRIP112q14.3100%gene with protein product604597Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia ; Heterotaxy
GUCY2D17p13.1100%gene with protein product600179CORD6, LCA, GUC2D, GUC1A4Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Childhood onset; Choriocapillaris atrophy; Chorioretinal atrophy; Cone/cone-rod dystrophy; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Eye poking; Fundus atrophy; Growth delay; Hemiplegia/hemiparesis; Hepatomegaly; Hyperthreoninemia; Hyperthreoninuria; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Peripheral visual field loss; Photophobia; Pigmentary retinopathy; Reduced visual acuity; Seizures; Sensorineural hearing impairment; Severe visual impairment
IFT14016p13.3100%gene with protein product614620WDTC2Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Cholestasis; Conductive hearing impairment; Cone-shaped epiphysis; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the capital femoral epiphysis; Infantile onset; Intellectual disability; Keratoconus; Micromelia; Muscular hypotonia; Narrow chest; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Renal cyst; Renal dysplasia; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Short femoral neck; Short foot; Short phalanx of finger; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney disease; Visual loss; Wide nasal bridgeHeterotaxy ; Short-Rib Thoracic Dysplasia
IMPDH17q32.1100%gene with protein product146690RP10Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Infantile onset; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable light- and dark-adapted electroretinogram; Visual impairment; Wide nasal bridge
IQCB13q13.3399.95%gene with protein product609237Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal recessive inheritance; Cataract; Encephalocele; Global developmental delay; Hemiplegia/hemiparesis; Heterogeneous; Hypertension; Keratoconus; Muscular hypotonia; Nephronophthisis; Nystagmus; Premature ovarian insufficiency; Progressive visual loss; Retinal dystrophy; Rod-cone dystrophy; Seizures; Severe visual impairment; Short stature; Stage 5 chronic kidney disease; Visual impairment
ISPD7p21.299.96%gene with protein product614631Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Calf muscle hypertrophy; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Deeply set eye; Elevated serum creatine phosphokinase; Encephalocele; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Limb-girdle muscular dystrophy; Lissencephaly; Low-set ears; Macrocephaly; Macroglossia; Macrogyria; Metatarsus valgus; Microphthalmia; Microtia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Partial agenesis of the corpus callosum; Peters anomaly; Polymicrogyria; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retrognathia; Scapular winging; Skeletal muscle atrophy; Slow progression; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
KCNJ132q37.1100%gene with protein product603208Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Encephalocele; Hemiplegia/hemiparesis; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Optic disc pallor; Photophobia; Reduced visual acuity; Seizures; Severe visual impairment; Visual impairment; Vitreoretinal degeneration
LCA56q14.199.85%gene with protein product611408C6orf152Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal recessive inheritance; Cataract; Encephalocele; Hemiplegia/hemiparesis; Hypermetropia; Keratoconus; Muscular hypotonia; Nystagmus; Seizures; Severe visual impairment; Undetectable electroretinogram; Visual impairment
LRAT4q32.1100%gene with protein product604863Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital blindness; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Falls; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pallor; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Wide nasal bridge
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
MSX25q35.2100%gene with protein product123101PFM1Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Bicoronal synostosis; Brachyturricephaly; Cleft palate; Cleft upper lip; Dermoid cyst; Encephalocele; Frontal bossing; Headache; Heterogeneous; Macrocephaly; Microtia; Parietal foramina; Seizures; Short clavicles; Symmetrical, oval parietal bone defects; Trigonocephaly; Unicoronal synostosis; Widely patent fontanelles and sutures
NMNAT11p36.22100%gene with protein product608700LCA9Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Encephalocele; Hemiplegia/hemiparesis; Hypermetropia; Keratoconus; Macular coloboma; Muscular hypotonia; Nystagmus; Optic atrophy; Optic disc pallor; Seizures; Severe visual impairment
PCYT1A3q2999.99%gene with protein product123695PCYT1Abnormal electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the ribs; Aplasia/Hypoplasia of the cerebellar vermis; Astigmatism; Autosomal recessive inheritance; Bowing of the long bones; Brachydactyly; Cataract; Cone/cone-rod dystrophy; Coxa vara; Cupped ribs; Decreased hip abduction; Dental malocclusion; Encephalocele; Femoral bowing; Hemiplegia/hemiparesis; High hypermetropia; Hyperlordosis; Hypoplastic inferior ilia; Iris hypopigmentation; Joint stiffness; Keratoconus; Large central visual field defect; Metaphyseal cupping; Metaphyseal irregularity; Metaphyseal widening; Muscular hypotonia; Myopia; Narrow greater sacrosciatic notches; Nyctalopia; Nystagmus; Ovoid vertebral bodies; Peripheral visual field loss; Photophobia; Platyspondyly; Postnatal growth retardation; Progressive visual loss; Recurrent otitis media; Rhizomelia; Scoliosis; Seizures; Severe platyspondyly; Severe short stature; Severe visual impairment; Short finger; Short metacarpal; Spondylometaphyseal dysplasia; Tibial bowing; Visual loss
RD31q32.3100%gene with protein product180040C1orf36Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal recessive inheritance; Cataract; Congenital blindness; Encephalocele; Hemiplegia/hemiparesis; Keratoconus; Muscular hypotonia; Nystagmus; Seizures; Severe visual impairment
RDH1214q24.1100%gene with protein product608830Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
RPE651p31.3100%gene with protein product180069RP20Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar vermis hypoplasia; Conductive hearing impairment; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Eye poking; Fundus atrophy; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
RPGRIP114q11.299.98%gene with protein product605446RPGRIPAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cleft palate; Cone/cone-rod dystrophy; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hemiplegia/hemiparesis; High hypermetropia; Hypertelorism; Keratoconus; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Macular degeneration; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Oligohydramnios; Optic atrophy; Pendular nystagmus; Photophobia; Postaxial foot polydactyly; Postaxial hand polydactyly; Reduced visual acuity; Sclerocornea; Seizures; Severe visual impairment; Sloping forehead; Talipes; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Visual impairmentHeterotaxy
RPGRIP114q11.299.98%gene with protein product605446RPGRIPAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cleft palate; Cone/cone-rod dystrophy; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hemiplegia/hemiparesis; High hypermetropia; Hypertelorism; Keratoconus; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Macular degeneration; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Oligohydramnios; Optic atrophy; Pendular nystagmus; Photophobia; Postaxial foot polydactyly; Postaxial hand polydactyly; Reduced visual acuity; Sclerocornea; Seizures; Severe visual impairment; Sloping forehead; Talipes; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Visual impairmentHeterotaxy
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
SPATA714q31.399.99%gene with protein product609868LCA3Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TMEM10717p13.1100%gene with protein product616183Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Cataract; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hypertelorism; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM21611q13.1100%gene with protein product613277CORS2, MKS2Abnormal chorioretinal morphology; Abnormal renal physiology; Abnormality of saccadic eye movements; Abnormality of the corpus callosum; Abnormality of the foot; Agenesis of cerebellar vermis; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Dysgenesis of the cerebellar vermis; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Esotropia; Failure to thrive; Frontal bossing; Full cheeks; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydrocephalus; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic male external genitalia; Impaired smooth pursuit; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Meningocele; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal cyst; Retinal dystrophy; Sclerocornea; Sloping forehead; Tachypnea; Talipes; Thickened superior cerebellar peduncle; Visual impairmentHeterotaxy
TMEM23116q23.199.51%gene with protein product614949Abnormal chorioretinal morphology; Absent speech; Aggressive behavior; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Global developmental delay; Hypertelorism; Intellectual disability; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Respiratory insufficiency; Retinal dystrophy; Sclerocornea; Self-mutilation; Sloping forehead; Tachypnea; TalipesHeterotaxy
TMEM2372q33.1100%gene with protein product614423ALS2CR4Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Encephalocele; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; High forehead; Highly arched eyebrow; Hydrocephalus; Hypertelorism; Hypertension; Intellectual disability; Intellectual disability, severe; Iris coloboma; Irritability; Long face; Low-set ears; Low-set, posteriorly rotated ears; Malar flattening; Microphthalmia; Molar tooth sign on MRI; Morning glory anomaly; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Open mouth; Postaxial polydactyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Renal cyst; Retinal dystrophy; Short philtrum; Strabismus; Tachypnea; Tented upper lip vermilionHeterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TMEM678q22.199.95%gene with protein product609884MKS3Abnormal chorioretinal morphology; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Breathing dysregulation; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Encephalocele; Enlarged fossa interpeduncularis; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Polydactyly; Polydipsia; Polyuria; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Renal corticomedullary cysts; Renal insufficiency; Retinal degeneration; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Stage 5 chronic kidney disease; Talipes; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Visual impairment; Wide mouthBardet-Biedl Syndrome ; Heterotaxy
TULP16p21.31100%gene with protein product602280RP14Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital nystagmus; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Impaired smooth pursuit; Intellectual disability; Keratoconus; Muscular hypotonia; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Pigmentary retinopathy; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Slow pupillary light response; Visual impairment; Wide nasal bridge
WDPCP2p1599.99%gene with protein product613580C2orf862-3 finger syndactyly; Abnormal chorioretinal morphology; Abnormal electroretinogram; Aplasia/Hypoplasia of the iris; Autosomal recessive inheritance; Benign neoplasm of the central nervous system; Broad hallux; Cataract; Cleft palate; Coarctation of aorta; Complete atrioventricular canal defect; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hamartoma of tongue; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Nystagmus; Obesity; Oligohydramnios; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short stature; Sloping forehead; Subvalvular aortic stenosis; TalipesBardet-Biedl Syndrome ; Heterotaxy ; Obesity
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly


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