XomeDxSlice Tool

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

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Phenotypes
Multicystic kidney dysplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTG22p13.1100%gene with protein product102545ACTL3, ACTA3Abdominal distention; Aplasia/Hypoplasia of the abdominal wall musculature; Hydroureter; Hypoperistalsis; Intestinal malrotation; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Polyhydramnios; Vesicoureteral reflux
ARL63q11.2100%gene with protein product608845BBS3Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; External genital hypoplasia; Glaucoma; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Progressive night blindness; Renal hypoplasia; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Variable expressivity; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; 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
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
BBIP110q25.2100%gene with protein product613605NCRNA00081Abnormal electroretinogram; Autosomal recessive inheritance; Brachydactyly; Cataract; Cognitive impairment; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Postaxial hand polydactyly; Renal insufficiency; Rod-cone dystrophy; Short statureBardet-Biedl Syndrome ; Obesity
BBS111q13.2100%gene with protein product209901Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Retinal degeneration; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS1012q21.2100%gene with protein product610148C12orf58Abnormal electroretinogram; Autosomal recessive inheritance; Cognitive impairment; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Renal cyst; Renal insufficiency; Rod-cone dystrophy; Short statureBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS124q27100%gene with protein product610683C4orf24Abnormal electroretinogram; Autosomal recessive inheritance; Cognitive impairment; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Rod-cone dystrophy; Short statureBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS216q13100%gene with protein product606151BBSAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; External genital hypoplasia; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Posterior polar cataract; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS415q24.199.96%gene with protein product600374Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; External genital hypoplasia; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS52q31.1100%gene with protein product603650Abnormal electroretinogram; Autosomal recessive inheritance; Brachydactyly; Cognitive impairment; External genital hypoplasia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Macular dystrophy; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Postaxial hand polydactyly; Rod-cone dystrophy; Short stature; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS74q2799.97%gene with protein product607590Abnormal electroretinogram; Autosomal recessive inheritance; External genital hypoplasia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Rod-cone dystrophy; Short statureBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS97p14.3100%gene with protein product607968Abnormal electroretinogram; Autosomal recessive inheritance; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Rod-cone dystrophy; Short stature; Variable expressivityBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
C8ORF378q22.1100%gene with protein product614477Abnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the dentition; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Beaten bronze macular sheen; Blindness; Cataract; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Horseshoe kidney; Hyperautofluorescent macular lesion; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the fovea; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Macular atrophy; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Progressive visual loss; Reduced amplitude of dark-adapted bright flash electroretinogram a-wave; Reduced visual acuity; Retinal atrophy; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity
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
CHRM31q43100%gene with protein product118494Abnormal heart morphology; Abnormality of the ribs; Abnormality of the skin; Anal atresia; Aplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the lungs; Autosomal recessive inheritance; Congenital hip dislocation; Congenital posterior urethral valve; Constipation; Cryptorchidism; Decreased fertility; Decreased testicular size; Hydronephrosis; Hydroureter; Multicystic kidney dysplasia; Oligohydramnios; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Prune belly; Recurrent respiratory infections; Recurrent urinary tract infections; Renal insufficiency; Talipes equinovarus; Vesicoureteral reflux; XerostomiaCongenital Kidney and Urinary Tract (CKUT) Anomalies
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
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
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
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
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
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
HNF1B17q12100%gene with protein product189907TCF2Atretic vas deferens; Autosomal dominant inheritance; Biliary tract abnormality; Cerebral cortical atrophy; Decreased numbers of nephrons; Diabetes mellitus; Elevated hepatic transaminases; Elevated serum creatinine; Epididymal cyst; Glucose intolerance; Glycosuria; Gout; Hypospadias; Insulin resistance; Late onset; Multicystic kidney dysplasia; Nephrolithiasis; Onset; Phenotypic variability; Proteinuria; Reduced sperm motility; Short stature; Stage 5 chronic kidney disease; Type II diabetes mellitus; Ureteropelvic junction obstructionCongenital Kidney and Urinary Tract (CKUT) Anomalies
HNF1B17q12100%gene with protein product189907TCF2Atretic vas deferens; Autosomal dominant inheritance; Biliary tract abnormality; Cerebral cortical atrophy; Decreased numbers of nephrons; Diabetes mellitus; Elevated hepatic transaminases; Elevated serum creatinine; Epididymal cyst; Glucose intolerance; Glycosuria; Gout; Hypospadias; Insulin resistance; Late onset; Multicystic kidney dysplasia; Nephrolithiasis; Onset; Phenotypic variability; Proteinuria; Reduced sperm motility; Short stature; Stage 5 chronic kidney disease; Type II diabetes mellitus; Ureteropelvic junction obstructionCongenital Kidney and Urinary Tract (CKUT) Anomalies
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
IFT2722q12.3100%gene with protein product615870RABL4Abnormal electroretinogram; Autosomal recessive inheritance; External genital hypoplasia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hyposmia; Intellectual disability; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Renal insufficiency; Rod-cone dystrophy; Short statureBardet-Biedl Syndrome ; Obesity
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KMT2A11q23.399.96%gene with protein product159555MLLAbnormally low-pitched voice; Aggressive behavior; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Blepharophimosis; Brachycephaly; Broad-based gait; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Flat face; Gastroesophageal reflux; Generalized hirsutism; Generalized hypotonia; High palate; Highly arched eyebrow; Hypertelorism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short middle phalanx of finger; Short neck; Short nose; Short stature; Short toe; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nose; Widely spaced teeth
LHX117q1299.76%gene with protein product601999Diabetes mellitus; Multicystic kidney dysplasia; Short statureDisorders of Sex Development
LMOD11q32.1100%gene with protein product602715Abdominal distention; Hydroureter; Hypoperistalsis; Intestinal malrotation; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Polyhydramnios
LZTFL13p21.3199.97%gene with protein product606568Abnormal electroretinogram; Autosomal recessive inheritance; Brachydactyly; Cognitive impairment; Cone/cone-rod dystrophy; External genital hypoplasia; Global developmental delay; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Mesoaxial polydactyly; Multicystic kidney dysplasia; Nystagmus; Obesity; Pigmentary retinopathy; Postaxial hand polydactyly; Renal cyst; Retinal degeneration; Short stature; Stage 5 chronic kidney diseaseBardet-Biedl Syndrome ; Obesity
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-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
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
MYH1116p13.11100%gene with protein product160745Abdominal distention; Abnormal iris pigmentation; Abnormality iris morphology; Aortic aneurysm; Aortic regurgitation; Aortic root aneurysm; Ascending aortic dissection; Autosomal dominant inheritance; Bicuspid aortic valve; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis; Cystic medial necrosis of the aorta; Descending aortic dissection; Descending thoracic aorta aneurysm; Exertional dyspnea; Hydroureter; Hypertension; Hypoperistalsis; Intestinal malrotation; Left ventricular failure; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Paroxysmal dyspnea; Patent ductus arteriosus; Polyhydramnios
MYLK3q21.1100%gene with protein product600922Abdominal distention; Abnormality iris morphology; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Ascending aortic dissection; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hydroureter; Hypertension; Hypoperistalsis; Intestinal malrotation; Left ventricular failure; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Paroxysmal dyspnea; Polyhydramnios
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
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
NPHP33q22.199.36%gene with protein product608002Abnormal biliary tract morphology; Abnormal liver parenchyma morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Aortic valve stenosis; Asplenia; Atrial septal defect; Autosomal recessive inheritance; Bile duct proliferation; Biliary cirrhosis; Cholestasis; Cirrhosis; Dandy-Walker malformation; Enlarged kidney; Enuresis; Global developmental delay; Hepatic cysts; Hepatic fibrosis; Hepatomegaly; Hypertension; Intestinal malrotation; Multicystic kidney dysplasia; Nephronophthisis; Oligohydramnios; Pancreatic cysts; Pancreatic fibrosis; Patent ductus arteriosus; Polycystic kidney dysplasia; Polydipsia; Polyhydramnios; Polysplenia; Polyuria; Potter facies; Premature ovarian insufficiency; Progressive visual loss; Pulmonary hypoplasia; Renal corticomedullary cysts; Renal dysplasia; Renal insufficiency; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Tubular atrophy; Tubulointerstitial fibrosis; Visual impairmentHeterotaxy
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
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX11B1q21.1100%gene with protein product603867Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dry skin; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypospadias; Intellectual disability, mild; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Migraine; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive hearing impairment; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Urinary incontinence; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PIGN18q21.3398.85%gene with protein product606097Abnormal cardiac septum morphology; Absent speech; Agenesis of corpus callosum; Amblyopia; Anal atresia; Anal stenosis; Anteverted nares; Aplasia/Hypoplasia of the nipples; Atrial septal defect; Autosomal recessive inheritance; Broad forehead; Cerebral atrophy; Cerebral cortical atrophy; Choreoathetosis; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Congenital onset; Corneal opacity; Cryptorchidism; Cupped ear; Depressed nasal bridge; Epicanthus; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic fingernail; Hyporeflexia; Intellectual disability; Large fleshy ears; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Median cleft lip; Micrognathia; Multicystic kidney dysplasia; Narrow forehead; Non-midline cleft lip; Nystagmus; Open mouth; Overfolded helix; Patent ductus arteriosus; Polyhydramnios; Posteriorly rotated ears; Pulmonary hypoplasia; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short neck; Short nose; Spasticity; Tented upper lip vermilion; Tetralogy of Fallot; Thickened nuchal skin fold; Thin vermilion border; Tremor; Variable expressivity; Wide intermamillary distance; Wide mouth; Wide nasal bridge
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
RAD218q24.1199.96%gene with protein product606462Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Exostoses; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; Widely spaced teeth
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
SDCCAG81q43-q4499.91%gene with protein product613524Abnormal electroretinogram; Abnormality of retinal pigmentation; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Bronchiolitis; Cognitive impairment; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; External genital hypoplasia; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Nephronophthisis; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Poor coordination; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Radial deviation of finger; Recurrent otitis media; Recurrent respiratory infections; Renal agenesis; Renal cyst; Renal dysplasia; Renal insufficiency; Respiratory distress; Retinal degeneration; Retinal dystrophy; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Stage 5 chronic kidney disease; Strabismus; Syndactyly; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
TBX186q14.3100%gene with protein product604613Autosomal dominant inheritance; Congenital megaureter; Cystic renal dysplasia; Flank pain; Hydronephrosis; Hydroureter; Multicystic kidney dysplasia; Nephrotic syndrome; Phenotypic variability; Renal dysplasia; Renal hypoplasia; Renal sarcoma; Ureteropelvic junction obstruction
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
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
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
TRIM329q33.1100%gene with protein product602290LGMD2HAbnormal electroretinogram; Abnormality of the kidney; Areflexia; Autosomal recessive inheritance; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Exercise-induced myalgia; Facial palsy; Gowers sign; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hyporeflexia; Increased variability in muscle fiber diameter; Intellectual disability; Mask-like facies; Multicystic kidney dysplasia; Muscular dystrophy; Myopathy; Neck flexor weakness; Nystagmus; Obesity; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Phenotypic variability; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Proximal muscle weakness in lower limbs; Quadriceps muscle weakness; Retinopathy; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Slow progression; Tall stature; Waddling gaitBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity; Rhabdomyolysis
TTC814q31.3100%gene with protein product608132Abnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Brachycephaly; Cataract; Cognitive impairment; Conductive hearing impairment; Glaucoma; Global developmental delay; High myopia; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Keratoconus; Macular degeneration; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Visual impairment; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
VHL3p25.3100%gene with protein product608537Abnormality of the cerebral vasculature; Abnormality of the liver; Abnormality of the retinal vasculature; Adrenal pheochromocytoma; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cafe-au-lait spot; Capillary hemangiomas; Cerebellar hemangioblastoma; Cerebral hemorrhage; Chest pain; Congenital cataract; Congestive heart failure; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epididymal cyst; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Gait disturbance; Glomerulosclerosis; Headache; Hemangioma; Hemiplegia/hemiparesis; Hydrocephalus; Hypercalcemia; Hyperhidrosis; Hypertension; Hypertensive retinopathy; Hypotension; Increased hematocrit; Increased hemoglobin; Increased red blood cell mass; Migraine; Multicystic kidney dysplasia; Multiple renal cysts; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the pancreas; Neurological speech impairment; Nystagmus; Palpitations; Pancreatic cysts; Papillary cystadenoma of the epididymis; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Peripheral thrombosis; Phenotypic variability; Pheochromocytoma; Plethora; Polycystic kidney dysplasia; Polycythemia; Positive regitine blocking test; Proteinuria; Pulmonary capillary hemangiomatosis; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Retinal capillary hemangioma; Sensorineural hearing impairment; Sensory neuropathy; Sinus tachycardia; Spinal hemangioblastoma; Sporadic; Stroke; Tachycardia; Telangiectasia of the skin; Tinnitus; Varicose veins; Vertigo; Visceral angiomatosis; Visual impairment; Weight loss
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
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
WNT317q21.31-q21100%gene with protein product165330INT4Abnormal lung lobation; Abnormal vertebral ossification; Abnormality of the diaphragm; Abnormality of the larynx; Absent external genitalia; Adrenal gland agenesis; Agenesis of corpus callosum; Anal atresia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia involving the pelvis; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the nipples; Asplenia; Autosomal recessive inheritance; Cataract; Choanal atresia; Cleft palate; Cleft upper lip; Cryptorchidism; Gastroschisis; Heterogeneous; Hydrocephalus; Hypoplasia of the fallopian tube; Hypoplastic pelvis; Iris coloboma; Low-set ears; Microcornea; Micrognathia; Microphthalmia; Microtia; Missing ribs; Multicystic kidney dysplasia; Narrow mouth; Optic atrophy; Oral cleft; Peripheral pulmonary vessel aplasia; Polyhydramnios; Pulmonary hypoplasia; Renal agenesis; Septo-optic dysplasia; Single naris; Single umbilical artery; Tetraamelia; Tracheal stenosis; Urethral atresia; Vaginal atresia


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