XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

What do you want to do?

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


 
Phenotypes
Stereotypy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADNP20q13.13100%gene with protein product611386Autistic behavior; Autosomal dominant inheritance; Downslanted palpebral fissures; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Infantile onset; Intellectual disability; Joint laxity; Language impairment; Obesity; Obsessive-compulsive behavior; Prominent forehead; Ptosis; Recurrent infections; Short nose; Short stature; Small hand; Smooth philtrum; Stereotypy; Strabismus; Thin upper lip vermilion; Visual impairment; Wide nasal bridge
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CHAMP113q34100%gene with protein product616327C13orf8, ZNF828Autosomal dominant inheritance; Congenital onset; Epicanthus; Everted lower lip vermilion; Facial hypotonia; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Impaired pain sensation; Intellectual disability; Joint hypermobility; Long face; Low-set ears; Microcephaly; Open mouth; Pointed chin; Recurrent respiratory infections; Short philtrum; Stereotypy; Strabismus; Tented upper lip vermilion; Upslanted palpebral fissure
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
COL4A3BP5q13.3100%gene with protein product6046772-3 toe syndactyly; Anteverted nares; Autosomal dominant inheritance; Bilateral ptosis; Broad-based gait; Bruxism; Coarse hair; Cortical visual impairment; Curly hair; Drooling; Epicanthus; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Intellectual disability; Muscular hypotonia of the trunk; Myopathic facies; Oligohydramnios; Postnatal microcephaly; Short foot; Smooth philtrum; Stereotypy; Synophrys; Upslanted palpebral fissure; Wide intermamillary distance; Widely spaced teeth
CPLX14p16.3100%gene with protein product605032Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aggressive behavior; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Developmental regression; Downturned corners of mouth; Ectopia pupillae; EEG with irregular generalized spike and wave complexes; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, mild; Intellectual disability, severe; Intrauterine growth retardation; Irritability; Kyphosis; Low posterior hairline; Malrotation of small bowel; Mental deterioration; Metatarsus adductus; Microcephaly; Micrognathia; Myoclonus; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
CTBP14p16.398.92%gene with protein product602618Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
FGFRL14p16.399.98%gene with protein product605830Abnormal form of the vertebral bodies; Abnormal sternal ossification; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Autosomal dominant inheritance; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Convex nasal ridge; Craniofacial asymmetry; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hemangioma; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Intellectual disability, severe; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Nystagmus; Periventricular cysts; Preauricular pit; Preauricular skin tag; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Scoliosis; Seizures; Severe postnatal growth retardation; Short philtrum; Short stature; Short upper lip; Small for gestational age; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
FLCN17p11.2100%gene with protein product607273Abnormal renal morphology; Abnormality of abdomen morphology; Abnormality of retinal pigmentation; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the pleura; Autism; Autosomal dominant inheritance; Broad forehead; Delayed myelination; Dental crowding; Dental malocclusion; Downslanted palpebral fissures; Dysphasia; Echolalia; EEG abnormality; Emphysema; Expressive language delay; Failure to thrive; Feeding difficulties in infancy; Fibrofolliculoma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; High palate; Hyperactivity; Hypermetropia; Hypertelorism; Hypocholesterolemia; Hypoplasia of the corpus callosum; Incomplete penetrance; Intellectual disability, mild; Language impairment; Mandibular prognathia; Microcephaly; Micrognathia; Multiple lipomas; Neoplasm of the stomach; Oral-pharyngeal dysphagia; Papule; Patent foramen ovale; Phenotypic variability; Pneumothorax; Poor eye contact; Prominent nasal tip; Pulmonary sequestration; Receptive language delay; Renal cell carcinoma; Renal cyst; Scoliosis; Seizures; Short stature; Skin tags; Sleep apnea; Small for gestational age; Smooth philtrum; Spontaneous pneumothorax; Sporadic; Stereotypy; Transitional cell carcinoma of the bladder; Triangular face; Trigonocephaly; Uterine leiomyosarcoma; Wide mouth
FLII17p11.299.92%gene with protein product600362Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hoarse voice; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
FOXP13p1399.87%gene with protein product605515Aggressive behavior; Anemia; Autosomal dominant inheritance; B-cell lymphoma; Broad nasal tip; Constipation; Delayed gross motor development; Delayed speech and language development; Downslanted palpebral fissures; Fatigue; Fever; Generalized hypotonia; Hyperactivity; Hyperhidrosis; Hypertelorism; Intellectual disability; Macrocephaly; Nausea and vomiting; Nystagmus; Open mouth; Prominent forehead; Pulmonary infiltrates; Retrognathia; Short nose; Stereotypy; Strabismus; Weight loss
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
IQSEC2Xp11.2297.85%gene with protein product300522MRX1, MRX78, MRX18Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; EEG abnormality; EEG with centrotemporal focal spike waves; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Hyperacusis; Hypercholesterolemia; Hypermetropia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Nasal speech; Neurological speech impairment; Obesity; Open mouth; Pes cavus; Pes planus; Poor speech; Precocious puberty; Scoliosis; Seizures; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
KPTN19q13.32100%gene with protein product615620Anxiety; Autosomal recessive inheritance; Broad nasal tip; Clinodactyly of the 5th finger; Congenital onset; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; Intellectual disability; Macrocephaly; Mandibular prognathia; Scaphocephaly; Stereotypy
LETM14p16.3100%gene with protein product604407Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MBD52q23.2100%gene with protein product611472Abnormality of lower lip; Aggressive behavior; Astigmatism; Ataxia; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Coarse facial features; Constipation; Cupped ear; Delayed speech and language development; Downturned corners of mouth; Esotropia; Everted lower lip vermilion; Febrile seizures; Feeding difficulties in infancy; Frontal bossing; Generalized hirsutism; Highly arched eyebrow; Hyperactivity; Hypermetropia; Intellectual disability; Intellectual disability, severe; Language impairment; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Microtia; Motor delay; Muscular hypotonia; Myopia; Open mouth; Paroxysmal bursts of laughter; Polyphagia; Postnatal growth retardation; Prominent nose; Protruding ear; Retrognathia; Sandal gap; Seizures; Self-injurious behavior; Short attention span; Short chin; Short foot; Short nose; Short palm; Short stature; Sleep disturbance; Small hand; Stereotypy; Synophrys; Tented upper lip vermilion; Thick eyebrow; Thin upper lip vermilion; Visual impairment; Wide mouth; Widely spaced teeth
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MEF2C5q14.3100%gene with protein product600662Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Broad forehead; Delayed speech and language development; Depressed nasal bridge; Downturned corners of mouth; Generalized hypotonia; High forehead; Hypertelorism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability, severe; Low-set ears; Motor delay; Muscular hypotonia; Poor eye contact; Seizures; Short chin; Short nose; Short philtrum; Sporadic; Stereotypy; Upslanted palpebral fissure; Ventriculomegaly
MGAT214q21.3100%gene with protein product602616Abnormality of the rib cage; Aggressive behavior; Autosomal recessive inheritance; Brachycephaly; Coxa valga; Diastema; Downslanted palpebral fissures; Everted lower lip vermilion; Failure to thrive; Generalized hypotonia; Gingival overgrowth; Intellectual disability, progressive; Intellectual disability, severe; Long eyelashes; Low hanging columella; Macrocephaly; Macrodontia; Macrotia; Microcephaly; Midfrontal capillary hemangioma; Open mouth; Osteopenia; Pectus excavatum; Pes planus; Posteriorly rotated ears; Postnatal growth retardation; Prominent nasal bridge; Protruding tongue; Proximal placement of thumb; Reduced antithrombin III activity; Reduced factor IX activity; Reduced factor XI activity; Reduced factor XII activity; Retrognathia; Seizures; Self-mutilation; Sensorineural hearing impairment; Short neck; Short stature; Slender long bone; Stereotypy; Tall stature; Thick eyebrow; Thin vermilion border; Thoracolumbar kyphoscoliosis; Type II transferrin isoform profile; Unsteady gait; Ventricular septal defect; Wide mouth
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
NACC119p13.13100%gene with protein product610672BTBD14BAbsent speech; Autosomal dominant inheritance; Broad nasal tip; Cataract; Cerebral atrophy; Delayed myelination; Difficulty walking; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Intellectual disability; Irritability; Microcephaly; Poor head control; Scoliosis; Seizures; Spasticity; Stereotypy
NAT8L4p16.394.42%gene with protein product610647Autosomal recessive inheritance; Decreased body weight; Generalized hypotonia; Global developmental delay; Inguinal hernia; Microcephaly; Seizures; Short attention span; Short stature; Stereotypy; Truncal ataxia; Unsteady gait
NDPXp11.3100%gene with protein product300658EVR2Abnormal chorioretinal morphology; Abnormal cochlea morphology; Abnormal macular morphology; Abnormality of the retinal vasculature; Aggressive behavior; Anterior chamber synechiae; Anxiety; Aplasia/Hypoplasia of the lens; Blindness; Cataract; Deeply set eye; Dementia; Erectile abnormalities; Exudative vitreoretinopathy; Falciform retinal fold; Glaucoma; Hallucinations; Hypoplasia of the iris; Hypotelorism; Intellectual disability, progressive; Intraretinal exudate; Irritability; Macrotia; Microphthalmia; Narrow nasal bridge; Neoplasm of the eye; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Peripheral vitreous opacities; Premature birth; Psychosis; Reduced visual acuity; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal fold; Sclerocornea; Seizures; Sensorineural hearing impairment; Shallow anterior chamber; Small for gestational age; Stereotypy; Strabismus; Subretinal exudate; Vascular neoplasm; Venous insufficiency; X-linked recessive inheritance
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
NLGN4XXp22.32-p22.99.99%gene with protein product300427NLGN4Autism; Childhood onset; Delayed speech and language development; EEG abnormality; Heterogeneous; Impaired use of nonverbal behaviors; Increased serum serotonin; Inflexible adherence to routines or rituals; Intellectual disability; Lack of peer relationships; Lack of spontaneous play; Multifactorial inheritance; Restrictive behavior; Seizures; Sporadic; Stereotypy; X-linked inheritance
NPC214q24.3100%gene with protein product601015Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Onset; Perseveration; Prolonged neonatal jaundice; Psychosis; Respiratory failure; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Stereotypy; Vertical supranuclear gaze palsy
NSD24p16.399.98%gene with protein product602952WHSC1Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
NTRK29q21.33100%gene with protein product600456Abnormality of skin morphology; Autosomal dominant inheritance; Developmental regression; Facial asymmetry; Hypsarrhythmia; Infantile spasms; Myoclonus; Obesity; Polyphagia; Severe global developmental delay; StereotypyObesity
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
PRDM161p36.32100%gene with protein product605557Abnormal left ventricle morphology; Absent speech; Agenesis of corpus callosum; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congestive heart failure; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dilated cardiomyopathy; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Left ventricular noncompaction; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
PRODH22q11.2199.99%gene with protein product606810Aggressive behavior; Autosomal recessive inheritance; EEG abnormality; Generalized hypotonia; Global developmental delay; Hydroxyprolinuria; Hyperactivity; Hyperglycinuria; Hyperprolinemia; Intellectual disability; Nephropathy; Phenotypic variability; Prolinuria; Proteinuria; Status epilepticus; StereotypyPalmoplantar keratoderma plus congenital ichthyosis
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SLC6A8Xq2899.65%gene with protein product300036Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Aganglionic megacolon; Aggressive behavior; Ataxia; Athetosis; Attention deficit hyperactivity disorder; Autistic behavior; Broad forehead; Cachexia; Chorea; Constipation; Delayed myelination; Delayed speech and language development; Dystonia; Exotropia; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Hypertonia; Hypoplasia of the corpus callosum; Ileus; Impaired social interactions; Infantile onset; Intellectual disability; Joint hypermobility; Long face; Malar flattening; Mandibular prognathia; Microcephaly; Midface retrusion; Motor delay; Muscular hypotonia; Myopathic facies; Narrow face; Neonatal hypotonia; Open mouth; Pes cavus; Poor hand-eye coordination; Ptosis; Seizures; Self-mutilation; Short stature; Spasticity; Stereotypy; Tall stature; Underfolded superior helices; Vomiting; X-linked recessive inheritance
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SNRPN15q11.2100%gene with protein product182279PWCRAbdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autism; Childhood onset; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; EEG abnormality; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Heterogeneous; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired ability to form peer relationships; Impaired pain sensation; Impaired use of nonverbal behaviors; Increased serum serotonin; Infertility; Inflexible adherence to routines or rituals; Intellectual disability; Kyphosis; Lack of spontaneous play; Micropenis; Motor delay; Multifactorial inheritance; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Restrictive behavior; Scoliosis; Seizures; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Stereotypy; Thin upper lip vermilion; Ventriculomegaly
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
TARDBP1p36.22100%gene with protein product605078Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Babinski sign; Depressivity; Disinhibition; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Perseveration; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Stereotypy; Xerostomia
TKT3p21.1100%gene with protein product606781Autosomal recessive inheritance; Intellectual disability; Patent ductus arteriosus; Patent foramen ovale; Proportionate short stature; Self-injurious behavior; Stereotypy; Ventricular septal defect
TMEM106B7p21.3100%gene with protein product613413Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Alexia; Anxiety; Apraxia; Collectionism; Depressivity; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Grammar-specific speech disorder; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Perseveration; Personality changes; Poor speech; Restlessness; Restrictive behavior; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TTI28p12100%gene with protein product614426C8orf41Aggressive behavior; Anteverted ears; Autosomal recessive inheritance; Deeply set eye; Delayed speech and language development; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Kyphoscoliosis; Macrotia; Microcephaly; Prominent nose; Short stature; Sloping forehead; Stereotypy; Strabismus; Synophrys
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia


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