XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Hyperactivity

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AASS7q31.3299.99%gene with protein product605113Abnormality of the genitourinary system; Anemia; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Ectopia lentis; EEG abnormality; Histidinuria; Hyperactivity; Hyperlysinemia; Hyperlysinuria; Infantile onset; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Phenotypic variability; Seizures; Short attention span; Short stature; Spastic diplegia
ACY13p21.2100%gene with protein product104620Acute encephalopathy; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Delayed CNS myelination; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypertelorism; Muscle weakness; Phenotypic variability; Seizures; Sensorineural hearing impairment; Wide nasal bridge
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
ADSL22q13.1100%gene with protein product608222Abnormal facial shape; Absent speech; Aggressive behavior; Anteverted nares; Autism; Autosomal recessive inheritance; Brachycephaly; Brisk reflexes; Cerebellar atrophy; Cerebral atrophy; Cerebral hypomyelination; CNS hypomyelination; Delayed speech and language development; Flat occiput; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypointensity of cerebral white matter on MRI; Inability to walk; Inappropriate laughter; Infantile onset; Intellectual disability; Long philtrum; Low-set ears; Microcephaly; Myoclonus; Nystagmus; Opisthotonus; Poor eye contact; Prominent metopic ridge; Seizures; Self-mutilation; Severe global developmental delay; Short nose; Skeletal muscle atrophy; Smooth philtrum; Strabismus; Thin upper lip vermilion; Wide mouth
AFF2Xq2899.91%gene with protein productXomeDxSlice can detect sequencing variants but not FRAXE repeat expansions in this gene.300806FMR2Abnormality of metabolism/homeostasis; Aggressive behavior; Agitation; Delayed speech and language development; Epicanthus; Hyperactivity; Impulsivity; Intellectual disability; Obsessive-compulsive behavior; Prominent nasal bridge; X-linked recessive inheritance
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
AMT3p21.31100%gene with protein product238310Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; SeizuresAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
ANK310q21.2100%gene with protein product600465Aggressive behavior; Autosomal recessive inheritance; Bruxism; Generalized hypotonia; Hyperactivity; Intellectual disability; Intellectual disability, moderate; Spasticity
APC219p13.399.99%gene with protein product612034Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Conductive hearing impairment; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Global developmental delay; High forehead; High palate; Hyperactivity; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Macrocephaly; Macrotia; Mandibular prognathia; Muscular hypotonia; Obesity; Poor speech; Precocious puberty; Prominent forehead; Prominent nose; Relative macrocephaly; Tall stature; Ventriculomegaly
ARG16q23.2100%gene with protein product608313Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Diaminoaciduria; EEG abnormality; Global developmental delay; Hemiplegia/hemiparesis; Hyperactivity; Hyperammonemia; Intellectual disability; Intellectual disability, severe; Irritability; Neurological speech impairment; Oroticaciduria; Postnatal growth retardation; Progressive spastic quadriplegia; Seizures; Vomiting
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
CC2D1A19p13.1299.99%gene with protein product610055Autosomal recessive inheritance; Global developmental delay; Hyperactivity; Hypomimic face; Incomprehensible speech; Intellectual disability, progressive; Intellectual disability, severe; Juvenile onset; Short attention span
CCBE118q21.32100%gene with protein product612753Abnormality of dental morphology; Ascites; Atrial septal defect; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Camptodactyly; Conductive hearing impairment; Conical incisor; Coronal craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Ectopic kidney; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hirsutism; Horseshoe kidney; Hydronephrosis; Hyperactivity; Hypertelorism; Hypoalbuminemia; Hypoplastic iliac wing; Increased number of teeth; Intellectual disability; Intestinal lymphangiectasia; Joint contracture of the hand; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Mild postnatal growth retardation; Narrow chest; Narrow mouth; Narrow palate; Oligodontia; Pachygyria; Pectus excavatum; Pericardial effusion; Pericardial lymphangiectasia; Periorbital edema; Pleural effusion; Pleural lymphangiectasia; Protein-losing enteropathy; Rectal prolapse; Recurrent respiratory infections; Reduced number of teeth; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short foot; Short palm; Small hand; Smooth philtrum; Spina bifida occulta; Splenomegaly; Talipes equinovarus; Thyroid lymphangiectasia; Umbilical hernia; Ventricular septal defect; Vesicoureteral reflux; Wide nasal bridge
CHD215q26.1100%gene with protein product602119Abnormal brain FDG positron emission tomography; Abnormality of brainstem morphology; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Dysarthria; EEG abnormality; EEG with abnormally slow frequencies; EEG with focal sharp slow waves; EEG with spike-wave complexes (>3.5 Hz); Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonic atonic seizures; Myoclonus; Personality disorder; Status epilepticus
CNTNAP27q35-q36.1100%gene with protein product604569Cortical dysplasia; Delayed gross motor development; Hyperactivity; Impaired social interactions; Intellectual disability; Progressive language deterioration; Reduced tendon reflexes; Seizures
CORO1A16p11.292.41%gene with protein product605000Autosomal recessive inheritance; Global developmental delay; Hyperactivity; Immunodeficiency; Infantile onset; Lymphopenia; Recurrent respiratory infections
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
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DNM19q34.11100%gene with protein product602377DNMAbnormality of brainstem morphology; Absent speech; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Difficulty walking; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Inability to walk; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
DPYD1p21.399.97%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 612779Abnormal eating behavior; Abnormality of vision; Astigmatism; Autism; Autistic behavior; Autosomal recessive inheritance; Broad nasal tip; Cerebral atrophy; Coloboma; Deeply set eye; Delayed speech and language development; Failure to thrive; Full cheeks; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypertonia; Intellectual disability; Intellectual disability, mild; Lethargy; Long ear; Macrocephaly; Microcephaly; Microphthalmia; Motor delay; Myopia; Nystagmus; Obesity; Optic atrophy; Phenotypic variability; Reduced dihydropyrimidine dehydrogenase activity; Seizures; Short nose; Shyness; Tetraplegia; Upslanted palpebral fissure
DYRK1A21q22.13100%gene with protein product600855DYRK1, DYRK, MNBHAtaxia; Autism; Autosomal dominant inheritance; Bulbous nose; Cerebral cortical atrophy; Deeply set eye; Delayed speech and language development; Failure to thrive in infancy; Febrile seizures; Gait disturbance; Generalized hypotonia; Hallux valgus; Hyperactivity; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Macrotia; Microcephaly; Micrognathia; Narrow forehead; Severe global developmental delay; Small for gestational age; Thickened helices
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
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
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
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
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
GABRB315q12100%gene with protein product137192Abnormality of brainstem morphology; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Dyskinesia; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
GABRB315q12100%gene with protein product137192Abnormality of brainstem morphology; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Dyskinesia; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
GCSH16q23.299.99%gene with protein product238330Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
GLDC9p24.199.99%gene with protein product238300Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
HERC215q13.199.37%gene with protein product605837Abdominal obesity; Aggressive behavior; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blue irides; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperactivity; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Mandibular prognathia; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palate; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Plagiocephaly; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Sandal gap; Scoliosis; Self-mutilation; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Strabismus; Thin upper lip vermilion; Unsteady gait; Ventriculomegaly
HGSNAT8p11.21-p11.99.95%gene with protein product610453TMEM76Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Asymmetric septal hypertrophy; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cellular metachromasia; Coarse facial features; Coarse hair; Conductive hearing impairment; Constriction of peripheral visual field; Dense calvaria; Diarrhea; Dolichocephaly; Dysostosis multiplex; Dysphagia; Everted lower lip vermilion; Glaucoma; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hernia; Hirsutism; Hyperactivity; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Joint stiffness; Keratoconus; Kyphoscoliosis; Loss of speech; Motor delay; Motor deterioration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovoid thoracolumbar vertebrae; Photophobia; Progressive night blindness; Recurrent upper respiratory tract infections; Retinal atrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs; Variable expressivity; Wide nasal bridge
HIVEP26q24.2100%gene with protein product143054Abnormal facial shape; Anxiety; Autistic behavior; Autosomal dominant inheritance; Constipation; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hyperactivity; Impulsivity; Infantile onset; Intellectual disability; Narrow mouth; Prominent nasal bridge; Tapered finger; Wide nasal bridge
IGF112q23.286.91%gene with protein product147440Abnormal facial shape; Abnormality of metabolism/homeostasis; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Clinodactyly; Clinodactyly of the 5th finger; Congenital onset; Congenital sensorineural hearing impairment; Decreased body weight; Delayed eruption of teeth; Delayed skeletal maturation; Failure to thrive; Hyperactivity; Hypogonadism; Insulin resistance; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Microcephaly; Micrognathia; Motor delay; Neonatal hyperbilirubinemia; Osteopenia; Osteoporosis; Prelingual sensorineural hearing impairment; Ptosis; Radial deviation of finger; Sensorineural hearing impairment; Severe intrauterine growth retardation; Severe postnatal growth retardation; Short attention span; Short stature; Small for gestational age; Small placentaObesity
IL1RAPL1Xp21.3-p21.2100%gene with protein product300206IL1RAPL, MRX34, MRX21, MRX10Autism; Dental crowding; Hyperactivity; Hypertelorism; Intellectual disability; Intellectual disability, moderate; Joint hypermobility; Mandibular prognathia; Open mouth; Short nose; Synophrys; Tented upper lip vermilion; Uplifted earlobe; Upslanted palpebral fissure; X-linked recessive inheritance
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
MANBA4q2499.94%gene with protein product609489Abnormal facial shape; Abnormality of metabolism/homeostasis; Aggressive behavior; Angiokeratoma; Autosomal recessive inheritance; Generalized hypotonia; Hearing impairment; Hyperactivity; Hypoplasia of the abdominal wall musculature; Increased urinary disaccharide excretion; Intellectual disability; Muscular hypotonia; Neurological speech impairment; Recurrent infections; Recurrent respiratory infections; Seizures; Tortuosity of conjunctival vessels
MAPK104q21.3100%gene with protein product602897PRKM10Abnormality of brainstem morphology; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; EEG with focal sharp slow waves; Encephalopathy; Falls; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder
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
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MID2Xq22.3100%gene with protein product300204Absent speech; Congenital onset; Global developmental delay; Hyperactivity; Intellectual disability; Poor speech; Strabismus; X-linked recessive inheritance
NAGLU17q21.2100%gene with protein product609701Aggressive behavior; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Coarse facial features; Coarse hair; Dense calvaria; Diarrhea; Distal sensory impairment; Dysostosis multiplex; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Hyporeflexia; Intellectual disability; Joint stiffness; Juvenile onset; Ovoid thoracolumbar vertebrae; Progressive; Progressive neurologic deterioration; Recurrent upper respiratory tract infections; Seizures; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
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
NSDHLXq28100%gene with protein product300275Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormality of digit; Abnormality of the nail; Aggressive behavior; Almond-shaped palpebral fissure; Aplasia/hypoplasia of the extremities; Cleft upper lip; Congenital ichthyosiform erythroderma; Delayed speech and language development; Dental crowding; Epicanthus; Epiphyseal stippling; Generalized hypotonia; Global developmental delay; Heterogeneous; High palate; Hydronephrosis; Hyperactivity; Hyperkeratosis; Hyperlordosis; Hypoplastic pelvis; Intellectual disability; Intellectual disability, mild; Irritability; Joint hypermobility; Kyphosis; Long face; Malar flattening; Microcephaly; Micrognathia; Mild intrauterine growth retardation; Narrow face; Pachygyria; Parakeratosis; Polymicrogyria; Posteriorly rotated ears; Prominent nasal bridge; Retrognathia; Scoliosis; Seizures; Single ventricle; Sleep disturbance; Slender build; Strabismus; Umbilical hernia; Upslanted palpebral fissure; X-linked dominant inheritance; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
NTRK11q23.1100%gene with protein product191315Acral ulceration and osteomyelitis leading to autoamputation of digits; Anhidrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal scarring; Corneal ulceration; Decreased number of small peripheral myelinated nerve fibers; Dysautonomia; Emotional lability; Episodic fever; Global developmental delay; Hyperactivity; Hypotrichosis of the scalp; Impaired pain sensation; Infantile onset; Intellectual disability; Irritability; Keratitis; Medullary thyroid carcinoma; Nail dysplasia; Nail dystrophy; Neuropathic arthropathy; Opacification of the corneal stroma; Osteomyelitis; Pain insensitivity; Postural hypotension with compensatory tachycardia; Recurrent corneal erosions; Self-injurious behavior; Self-mutilation; Skin ulcerPalmoplantar keratoderma plus congenital ichthyosis
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PAK3Xq2398.65%gene with protein product300142MRX30, MRX47Aggressive behavior; Agitation; Anteverted nares; Anxiety; Delayed gross motor development; Delayed speech and language development; Drooling; Flat face; High palate; Hyperactivity; Intellectual disability; Macrotia; Microcephaly; Open mouth; Psychosis; Seizures; Short attention span; Short nose; Thin upper lip vermilion; Variable expressivity; X-linked recessive inheritance
PANK220p13100%gene with protein product606157C20orf48, NBIA1Abnormal pyramidal signs; Abnormality of the foot; Acanthocytosis; Akinesia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Cerebral degeneration; Choreoathetosis; Decreased circulating low-density lipoprotein levels; Decreased muscle mass; Dementia; Depressivity; Dysarthria; Dysphagia; Dysphonia; Dystonia; Eye of the tiger anomaly of globus pallidus; Eyelid apraxia; Facial grimacing; Feeding difficulties in infancy; Gait disturbance; Global brain atrophy; Global developmental delay; Hyperactivity; Hyperpigmentation of the skin; Juvenile onset; Motor tics; Myopathy; Neurodegeneration; Obsessive-compulsive trait; Optic atrophy; Orofacial dyskinesia; Pallidal degeneration; Parkinsonism; Pigmentary retinopathy; Rapidly progressive; Retinal degeneration; Rigidity; Rod-cone dystrophy; Slow progression; Spasticity; Tremor; Urinary incontinence
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PIGY4q22.1100%gene with protein product6106622-3 toe syndactyly; Anteverted nares; Autosomal recessive inheritance; Bulbous nose; Clinodactyly; Congenital cataract; Congenital onset; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Echogenic fetal bowel; EEG with multifocal slow activity; Elbow flexion contracture; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; Growth delay; High palate; Hip contracture; Hip dysplasia; Hyperactivity; Inguinal hernia; Knee flexion contracture; Large earlobe; Limb undergrowth; Long palpebral fissure; Microcephaly; Muscular hypotonia of the trunk; Narrow forehead; Osteopenia; Polyhydramnios; Prominent nasal tip; Seizures; Short neck; Shortening of all distal phalanges of the fingers; Strabismus; Thickened helices; Vomiting; Wide mouth
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PNKP19q13.3399.82%gene with protein product605610Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cortical gyral simplification; Dystonia; Epileptic encephalopathy; Generalized hypotonia; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability, severe; Motor delay; Oculomotor apraxia; Peripheral neuropathy; Progressive microcephaly; Rapidly progressive; Seizures; Skeletal muscle atrophy; Tetraplegia; Ventriculomegaly
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
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
PTCH19q22.32100%gene with protein product601309NBCCS, PTCHAbnormality of the neck; Abnormality of the ribs; Abnormality of the sternum; Absent nasal septal cartilage; Accelerated skeletal maturation; Agenesis of corpus callosum; Alobar holoprosencephaly; Arnold-Chiari malformation; Autosomal dominant inheritance; Basal cell carcinoma; Bifid ribs; Bilateral cleft lip and palate; Bilateral microphthalmos; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Delayed eruption of teeth; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Flat nasal alae; Flat occiput; Frontal bossing; Fusion of the left and right thalami; Glaucoma; Global developmental delay; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the premaxilla; Hypotelorism; Incomplete penetrance; Intellectual disability; Iris coloboma; Irregular ossification of hand bones; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large for gestational age; Long philtrum; Low-set ears; Macrocephaly; Macrotia; Mandibular prognathia; Median cleft lip and palate; Medulloblastoma; Melanocytic nevus; Metopic synostosis; Microphthalmia; Midface retrusion; Midline defect of the nose; Milia; Motor delay; Muscular hypotonia; Narrow mouth; Neoplasm; Odontogenic keratocysts of the jaw; Oral cleft; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Panhypopituitarism; Parietal bossing; Pectus excavatum; Plantar pits; Polydactyly; Retinopathy; Scoliosis; Seizures; Semilobar holoprosencephaly; Short 4th metacarpal; Short distal phalanx of the thumb; Short neck; Short nose; Short ribs; Single median maxillary incisor; Skin tags; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Tall stature; Thickened ears; Trigonocephaly; Umbilical hernia; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Vertebral fusion; Vertebral wedging; Wide nasal bridge
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
SATB22q33.199.98%gene with protein product608148Aggressive behavior; Arachnodactyly; Autosomal dominant inheritance; Broad-based gait; Bulbous nose; Camptodactyly; Cleft palate; Conical tooth; Delayed speech and language development; Dental crowding; Downslanted palpebral fissures; Feeding difficulties; Fine hair; Frontal bossing; Global developmental delay; Happy demeanor; High forehead; High palate; Hyperactivity; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Long face; Long nose; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Nail dysplasia; Narrow mouth; Narrow nose; Oligodontia; Prominent nasal bridge; Seizures; Short stature; Smooth philtrum; Sparse hair; Talipes equinovarus; Thin skin; Thin vermilion border
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity
SGSH17q25.3100%gene with protein product605270Asymmetric septal hypertrophy; Autosomal recessive inheritance; Coarse facial features; Coarse hair; Dense calvaria; Diarrhea; Dysostosis multiplex; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Ovoid thoracolumbar vertebrae; Recurrent upper respiratory tract infections; Seizures; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
SHOC210q25.2100%gene with protein product602775Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Autosomal dominant inheritance; Deep philtrum; Delayed skeletal maturation; Epicanthus; Hydrocephalus; Hyperactivity; Hypertelorism; Hypertrophic cardiomyopathy; Intellectual disability; Loose anagen hair; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Pectus excavatum; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonic stenosis; Short neck; Short nose; Short stature; Sparse scalp hair; Strabismus; Ventricular septal defect; Webbed neck
SHROOM4Xp11.22100%gene with protein product300579Bruxism; Depressed nasal bridge; Epicanthus; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hirsutism; Hyperactivity; Hypertelorism; Intellectual disability, profound; Kyphosis; Microcephaly; Scoliosis; Short foot; Short stature; Small hand; Strabismus; Talipes equinovarus; X-linked inheritance
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SLC1A42p14100%gene with protein product600229Autosomal recessive inheritance; Babinski sign; Cerebral atrophy; Congenital onset; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Irritability; Progressive microcephaly; Spastic tetraplegia
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
SPR2p13.2100%gene with protein product182125Abnormality of the nose; Aggressive behavior; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradykinesia; Choreoathetosis; Cognitive impairment; Delayed speech and language development; Drowsiness; Dysarthria; Dystonia; Global developmental delay; Growth delay; Hyperactivity; Hyperhidrosis; Hyperreflexia; Hypomimic face; Infantile onset; Intellectual disability; Limb hypertonia; Microcephaly; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Oculogyric crisis; Oculomotor apraxia; Ptosis; Rigidity; Seizures; Sleep disturbance; Spasticity; Temperature instability; Transient hyperphenylalaninemia; Tremor; Variable expressivity
TAF67q22.1100%gene with protein product602955TAF2EAutosomal recessive inheritance; Broad hallux; Cryptorchidism; Dental crowding; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Intellectual disability; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Narrow mouth; Neonatal hypotonia; Poor speech; Prominent nasal bridge; Prominent nose; Short stature; Synophrys; Thick eyebrow; Thin upper lip vermilion; Underdeveloped nasal alae
TNIK3q26.2-q26.3100%gene with protein product610005Autosomal recessive inheritance; Delayed speech and language development; Hyperactivity; Intellectual disability
TRAPPC98q24.3100%gene with protein product611966Abnormality of the cerebellar vermis; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congenital hypothyroidism; Congenital stationary night blindness; Downturned corners of mouth; Epicanthus; Generalized myoclonic seizures; Global developmental delay; Horizontal eyebrow; Hyperactivity; Hypertelorism; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, severe; Large fleshy ears; Malignant hyperthermia; Microcephaly; Multifocal cerebral white matter abnormalities; Muscular hypotonia; Narrow forehead; Obesity; Postnatal microcephaly; Round face; Short neck; Short philtrum; Smooth philtrum; Synophrys; Tapered finger; Thin upper lip vermilion; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
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
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
UQCC26p21.31100%gene with protein product614461C6orf125, MNF1Aggressive behavior; Autosomal recessive inheritance; Cryptorchidism; Depressed nasal bridge; Epicanthus; Global developmental delay; Hyperactivity; Infantile onset; Intrauterine growth retardation; Metabolic acidosis; Neonatal hypotonia; Poor speech; Postaxial polydactyly; Proximal renal tubular acidosis; Seizures; Synophrys; Upslanted palpebral fissure
WDR6219q13.12100%gene with protein product613583C19orf14, MCPH2Abnormal cortical bone morphology; Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Congenital onset; Cortical gyral simplification; Decreased fetal movement; Delayed speech and language development; Global developmental delay; Hemiparesis; Heterotopia; Hyperactivity; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Impulsivity; Intellectual disability; Intellectual disability, severe; Lissencephaly; Microcephaly; Pachygyria; Polymicrogyria; Schizencephaly; Seizures; Short stature; Sloping forehead; Spastic tetraparesis; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
YME1L110p12.199.61%gene with protein product607472Amblyopia; Autosomal recessive inheritance; Brain atrophy; Cerebellar hypoplasia; Dysmetria; Facial diplegia; Global developmental delay; Hyperactivity; Hyperkinesis; Hypermetropia; Infantile onset; Intellectual disability; Leukoencephalopathy; Macrocephaly; Macrotia; Microcephaly; Midface retrusion; Myopia; Optic atrophy; Short stature; Strabismus; Visual impairment


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