XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

What do you want to do?

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


 
Phenotypes
Cerebellar vermis hypoplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
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
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARMC92q37.199.99%gene with protein product617612Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
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
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
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
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
CENPF1q4199.99%gene with protein product600236Agenesis of corpus callosum; Autosomal recessive inheritance; Bilateral renal hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Duodenal atresia; StillbirthHeterotaxy
CEP1041p36.32100%gene with protein product616690KIAA0562Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Infantile onset; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
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
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
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
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
EXOSC813q13.399.86%gene with protein product606019Autosomal recessive inheritance; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; Hypoplasia of the corpus callosum; Muscle weakness; Respiratory failure; Spastic tetraparesis; Spinal muscular atrophy; Visual impairment
FOXC16p25.3100%gene with protein product601090FKHL7, IRID1Abnormal anterior chamber morphology; Abnormal iris vasculature; Abnormality of cardiovascular system morphology; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Cataract; Central opacification of the cornea; Cerebellar vermis hypoplasia; Concave nasal ridge; Congenital glaucoma; Ectopia pupillae; Everted lower lip vermilion; Glaucoma; Hearing impairment; Heterogeneous; Hypertelorism; Hypodontia; Hypoplasia of the iris; Hypoplastic iris stroma; Malar flattening; Microdontia; Midface retrusion; Nystagmus; Patent ductus arteriosus; Peters anomaly; Posterior embryotoxon; Proptosis; Rieger anomaly; Sensorineural hearing impairment; Subcapsular cataract; Thinning of Descemet membrane; Visual lossCongenital Kidney and Urinary Tract (CKUT) Anomalies
FRMD4A10p1399.84%gene with protein product616305FRMD4Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital microcephaly; Everted lower lip vermilion; Global developmental delay; Hirsutism; Intellectual disability; Long eyelashes; Low anterior hairline; Low-set ears; Narrow forehead; Posteriorly rotated ears; Protruding ear; Sparse hair; Strabismus; Thick eyebrow; Upper eyelid edema
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
KIAA055616p12.1100%gene with protein productFormer name = KATNIP616650KATNIPAnteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Central hypothyroidism; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Episodic tachypnea; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Global developmental delay; Growth hormone deficiency; Hypertelorism; Inferior vermis hypoplasia; Intellectual disability; Long face; Micropenis; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Panhypopituitarism; Ptosis; Recurrent upper respiratory tract infections; Short stature
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
LAMA118p11.31100%gene with protein product150320LAMAAbnormality of the periventricular white matter; Amblyopia; Autosomal recessive inheritance; Cerebellar cyst; Cerebellar dysplasia; Cerebellar vermis hypoplasia; Delayed speech and language development; Dilated fourth ventricle; Motor delay; Myopia; Nystagmus; Oculomotor apraxia; Retinal atrophy; Retinal dystrophy; Retinal thinning; Strabismus; Variable expressivity
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
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
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
NPHP12q1398.95%gene with protein product607100NPH1Abnormal electroretinogram; Abnormality of retinal pigmentation; Anemia; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cognitive impairment; Delayed gross motor development; Elongated superior cerebellar peduncle; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Heterogeneous; Hypertension; Hypogonadism; Hypometric saccades; Hypoplasia of penis; Hypoplasia of the ovary; Hyposthenuria; Intellectual disability; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Pigmentary retinopathy; Polydipsia; Polyuria; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Renal corticomedullary cysts; Renal insufficiency; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Tubulointerstitial fibrosis; Visual impairmentHeterotaxy ; Nephrotic Syndrome
NPHP12q1398.95%gene with protein product607100NPH1Abnormal electroretinogram; Abnormality of retinal pigmentation; Anemia; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cognitive impairment; Delayed gross motor development; Elongated superior cerebellar peduncle; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Heterogeneous; Hypertension; Hypogonadism; Hypometric saccades; Hypoplasia of penis; Hypoplasia of the ovary; Hyposthenuria; Intellectual disability; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Pigmentary retinopathy; Polydipsia; Polyuria; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Renal corticomedullary cysts; Renal insufficiency; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Tubular atrophy; Tubular basement membrane disintegration; Tubulointerstitial fibrosis; Visual impairmentHeterotaxy ; Nephrotic Syndrome
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
PIBF113q21.33-q2299.97%gene with protein product607532C13orf24Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
RBM10Xp11.399.52%gene with protein product300080Abnormality of the corpus callosum; Anteverted nares; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Cutaneous syndactyly; Deep palmar crease; Failure to thrive; Generalized hypotonia; Global developmental delay; Glossoptosis; High palate; Horseshoe kidney; Hydronephrosis; Hypoplasia of the radius; Intrauterine growth retardation; Large fontanelles; Low-set ears; Micrognathia; Microtia; Posteriorly rotated ears; Prominent antihelix; Short palpebral fissure; Single transverse palmar crease; Talipes equinovarus; Underdeveloped supraorbital ridges; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritance
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; 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
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
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
SLC25A1917q25.1100%gene with protein product606521MCPHAAgenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Contractures of the joints of the lower limbs; Death in infancy; Difficulty walking; Feeding difficulties; Flexion contracture; Hepatomegaly; Hyporeflexia; Increased CSF lactate; Irritability; Lactic acidosis; Lethargy; Limb hypertonia; Lissencephaly; Metabolic acidosis; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Organic aciduria; Osteoporosis; Paralysis; Partial agenesis of the corpus callosum; Peripheral axonal neuropathy; Polyneuropathy; Progressive microcephaly; Severe global developmental delay; Skeletal muscle atrophy; Sloping forehead; Spina bifida; Talipes equinovarus; Temperature instability; Ventriculomegaly
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
SRD5A34q12100%gene with protein product611715Abnormality of skin pigmentation; Autosomal recessive inheritance; Brachycephaly; Bulbous nose; Capillary hemangiomas; Cataract; Cerebellar vermis hypoplasia; Coloboma; Cutis laxa; Depressed nasal bridge; Eczema; Elbow flexion contracture; Elevated hepatic transaminases; Generalized hypotonia; Hyperkeratosis; Hypertelorism; Hypertrichosis; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Iris coloboma; Knee flexion contracture; Low-set ears; Microcytic anemia; Motor delay; Nystagmus; Polymicrogyria; Reduced antithrombin III activity; Thick lower lip vermilion; Thoracic kyphosis; Type I transferrin isoform profile; Visual loss; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
TBCK4q2499.95%gene with protein product616899Abnormality of the periventricular white matter; Autosomal recessive inheritance; Brain atrophy; Bulbous nose; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral atrophy; Coarse facial features; Congenital onset; Dysplastic corpus callosum; Encephalopathy; Hypoplasia of the corpus callosum; Hyporeflexia; Narrow forehead; Poor speech; Prominent nasal bridge; Sloping forehead; Small basal ganglia; Tented upper lip vermilion; Thick vermilion border; Variable expressivity
TCTN112q24.1199.39%gene with protein product609863Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxiaHeterotaxy
TCTN112q24.1199.39%gene with protein product609863Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxiaHeterotaxy
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
TMCO11q24.1100%gene with protein product614123TMCC4Bifid ribs; Brachycephaly; Broad philtrum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Coarse hair; Downslanted palpebral fissures; Epicanthus; Hemivertebrae; Hernia; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Midface retrusion; Narrow chest; Polyhydramnios; Rib fusion; Scoliosis; Short neck; Short nose; Short stature; Sprengel anomaly; Strabismus; Synophrys; Thick eyebrow; Ventriculomegaly; Wide mouth; Wide nose
TMEM13811q12.299.95%gene with protein product614459Apnea; Ataxia; Autistic behavior; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Coloboma; Global developmental delay; Intellectual disability; Iris coloboma; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Muscular hypotonia; Nephropathy; Nystagmus; Oculomotor apraxia; Ptosis; Retinal dystrophy; TachypneaHeterotaxy
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
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
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
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
TSEN3419q13.42100%gene with protein product608754LENG5Autosomal recessive inheritance; Cerebellar hemisphere hypoplasia; Cerebellar vermis hypoplasia; Chorea; Dystonia; Microcephaly; Visual impairment
TUBA1A12q13.12100%gene with protein product602529Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Cerebellar vermis hypoplasia; Generalized hypotonia; Heterotopia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, severe; Lissencephaly; Microcephaly; Motor delay; Pachygyria; Polymicrogyria; Seizures; Spastic tetraplegia; Ventriculomegaly
ZNF42316q12.1100%gene with protein product604557Apnea; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Global developmental delay; Intellectual disability; Iris coloboma; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Phenotypic variability; Polycystic kidney dysplasia; Ptosis; Retinal dystrophy; TachypneaHeterotaxy
ZNF42316q12.1100%gene with protein product604557Apnea; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Global developmental delay; Intellectual disability; Iris coloboma; Long face; Low-set, posteriorly rotated ears; Molar tooth sign on MRI; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Phenotypic variability; Polycystic kidney dysplasia; Ptosis; Retinal dystrophy; TachypneaHeterotaxy


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