ClinVar Miner

Intergenic variants

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association drug response other not provided total
568 96 3204 713 7629 5 4 94 281 12588

Condition and significance breakdown #

Total conditions: 310
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association drug response other not provided total
not provided 12 6 86 94 5778 0 0 0 20 5996
See cases 388 16 2959 592 1783 0 0 0 0 5734
Familial colorectal cancer 0 0 0 0 0 0 0 94 0 94
Normal pregnancy 0 0 0 0 0 0 0 0 91 91
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 0 0 70 70
Preeclampsia 0 0 0 0 0 0 0 0 66 66
Small for gestational age 0 0 1 0 0 0 0 0 62 63
Premature ovarian failure 0 0 0 0 56 0 0 0 0 56
Large for gestational age 0 0 0 0 0 0 0 0 54 54
Autism spectrum disorder 30 16 2 0 0 0 0 0 0 48
Abnormality of esophagus morphology 0 0 2 21 5 0 0 0 0 28
Myopathy, Central Core 18 0 0 0 0 0 0 0 0 18
not specified 0 0 9 0 2 0 0 0 4 15
Primary amenorrhea 0 0 6 6 0 0 0 0 0 12
Autistic behavior 2 0 6 0 0 0 0 0 0 8
Global developmental delay 1 2 5 0 0 0 0 0 0 8
Cholestanol storage disease 7 0 0 0 0 0 0 0 0 7
Structural brain abnormalities; Neurological deficit 7 0 0 0 0 0 0 0 0 7
Chromosome 17p13.1 deletion syndrome 4 1 0 0 0 0 0 0 0 5
Abnormality of prenatal development or birth 1 1 1 0 0 0 0 0 0 3
Autistic disorder of childhood onset 0 0 3 0 0 0 0 0 0 3
Carcinoma of colon 0 0 0 0 0 3 0 0 0 3
Failure to thrive 0 0 3 0 0 0 0 0 0 3
Seizures 0 1 2 0 0 0 0 0 0 3
Breast-ovarian cancer, familial 1 0 0 2 0 0 0 0 0 0 2
Chronic osteomyelitis 0 0 0 0 0 2 0 0 0 2
DFNA 2 Nonsyndromic Hearing Loss 2 0 0 0 0 0 0 0 0 2
Encephalopathy 0 1 1 0 0 0 0 0 0 2
Glycogen storage disease, type IV 2 0 0 0 0 0 0 0 0 2
Hypochondroplasia 2 0 0 0 0 0 0 0 0 2
Steinert myotonic dystrophy syndrome 1 0 0 0 1 0 0 0 0 2
16p13.2-p13.13 microduplication syndrome 1 0 0 0 0 0 0 0 0 1
Abnormal facial shape 0 0 1 0 0 0 0 0 0 1
Abnormal facial shape; Intellectual disability 1 0 0 0 0 0 0 0 0 1
Abnormality of the ear; Olivopontocerebellar degeneration; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormality of the retinal vasculature; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormality of nasopharyngeal adenoids 0 0 1 0 0 0 0 0 0 1
Abnormality of the eye; Global developmental delay 0 0 1 0 0 0 0 0 0 1
Abnormality of the nervous system 0 0 1 0 0 0 0 0 0 1
Abnormality of the nervous system; Behavioral abnormality; Abnormality of the genital system; Specific learning disability; Abnormality of the urinary system; Abnormality of vision; Abnormality of limbs 0 1 0 0 0 0 0 0 0 1
Abnormality of the pinna; Congenital sensorineural hearing impairment; Severe sensorineural hearing impairment 0 0 1 0 0 0 0 0 0 1
Abnormality of the pinna; Mild global developmental delay; Chronic constipation 0 0 1 0 0 0 0 0 0 1
Acanthosis nigricans; Obesity; Global developmental delay; Abnormality of skin pigmentation; Tapered finger; Deeply set eye; Macrotia; Abnormal facial shape; Anteverted nares; Macroorchidism; Abnormality of the dentition; Carious teeth; Gynecomastia; Hyperpigmentation of the skin; Long ear 0 0 1 0 0 0 0 0 0 1
Acute myeloid leukemia with maturation 1 0 0 0 0 0 0 0 0 1
Aplasia of the uterus 0 0 1 0 0 0 0 0 0 1
Astrocytoma 0 1 0 0 0 0 0 0 0 1
Atrial septal defect; Autistic behavior; Tracheomalacia; Gastroesophageal reflux 0 1 0 0 0 0 0 0 0 1
Atrial septal defect; Tricuspid regurgitation; Abnormal facial shape; Arrhythmia; Strabismus; Mitral regurgitation; Dysautonomia; Abnormality of the periventricular white matter; Ectopic pancreatic tissue; Abnormality of skin physiology; Abnormal renal morphology; Vasovagal syncope; Type I diabetes mellitus 0 0 1 0 0 0 0 0 0 1
Autism spectrum disorder; Macrocephalus 0 1 0 0 0 0 0 0 0 1
Autistic behavior; Growth delay; Agitation; Anxiety; Intellectual disability; Poor speech; Recurrent fractures; Reduced bone mineral density 1 0 0 0 0 0 0 0 0 1
Autistic behavior; Hemangioma; Eczema; Macrotia; Arachnodactyly; High forehead; Intellectual disability, mild; Sandal gap; Mild global developmental delay; Narrow nasal base 0 0 1 0 0 0 0 0 0 1
Autistic behavior; Intellectual disability, mild; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Autistic behavior; Posteriorly rotated ears; Hirsutism; Delayed speech and language development; Downslanted palpebral fissures; Strabismus; Protruding tongue; Moderate global developmental delay 0 0 1 0 0 0 0 0 0 1
Autistic behavior; Seizures; EEG with temporal focal spikes 0 0 1 0 0 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 0 0 0 0 1
Azoospermia; Testicular atrophy; Oral cleft 1 0 0 0 0 0 0 0 0 1
Behavioral abnormality 0 0 1 0 0 0 0 0 0 1
Behavioral abnormality; Abnormal facial shape 1 0 0 0 0 0 0 0 0 1
Behavioral abnormality; Impaired visuospatial constructive cognition; Mild global developmental delay 0 0 1 0 0 0 0 0 0 1
Bladder exstrophy 0 0 1 0 0 0 0 0 0 1
Brain malformations and urinary tract defects 1 0 0 0 0 0 0 0 0 1
Breast-ovarian cancer, familial 2 1 0 0 0 0 0 0 0 0 1
Carnitine palmitoyltransferase I deficiency 1 0 0 0 0 0 0 0 0 1
Cataract; Ambiguous genitalia; Hypospadias, penile 1 0 0 0 0 0 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 1 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Absent speech; Spastic diplegia; Drooling 0 0 1 0 0 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Behavioral abnormality; Generalized seizures; Recurrent fractures 0 1 0 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 1 0 0 0 0 0 0 0 0 1
Cholangiocarcinoma 1 0 0 0 0 0 0 0 0 1
Chromosome 10q22.3-q23.2 deletion syndrome 1 0 0 0 0 0 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 1 0 0 0 0 0 0 0 0 1
Chromosome 17q12 duplication syndrome 1 0 0 0 0 0 0 0 0 1
Cleft of soft palate; Robin sequence; Global developmental delay; Retrognathia; Feeding difficulties; Open mouth; Microretrognathia; Facial asymmetry; Pectus carinatum; Hypoplastic scapulae; Abnormality of the costochondral junction; Neonatal hypotonia; Hypoplasia of deltoid muscle; Abnormality of the occipital bone 0 0 1 0 0 0 0 0 0 1
Cleft of soft palate; Robin sequence; Seizures; Micrognathia; Microcephaly; Gynecomastia; Growth hormone deficiency; Intellectual disability; Acute pancreatitis; Inability to walk; Abnormal subcutaneous fat tissue distribution; Gastrostomy tube feeding in infancy; Abnormality of movement 0 0 1 0 0 0 0 0 0 1
Cleft upper lip; Mixed hearing impairment; Abnormality of the inner ear; Double aortic arch; Muscular hypotonia; Asthma 0 0 1 0 0 0 0 0 0 1
Cleft upper lip; Motor delay; Enuresis; Abnormality of the skull; Delayed speech and language development; Facial asymmetry; Anxiety; Intellectual disability, mild; Mild global developmental delay; Heart murmur 1 0 0 0 0 0 0 0 0 1
Coarctation of aorta; Atrial septal defect; Abnormality of cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Muscular hypotonia; Patent ductus arteriosus 0 1 0 0 0 0 0 0 0 1
Coloboma of optic disc; Unsteady gait; Ligamentous laxity; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Piebaldism; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect 0 0 1 0 0 0 0 0 0 1
Congenital cataract; Macrocephalus; Mild global developmental delay; Widened subarachnoid space 0 0 1 0 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Abnormal facial shape; Abnormality of calvarial morphology; Abnormality of the ileum; Bronchogenic cyst 0 0 1 0 0 0 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 0 0 0 1
Congenital giant melanocytic nevus; Obesity; Behavioral abnormality; Scoliosis; Abnormal facial shape; Hyperpigmentation of the skin; Neonatal hypotonia; Hypoplastic toenails; Short toe; Long foot; Poor suck; Increased intracranial pressure; Accelerated skeletal maturation 0 0 1 0 0 0 0 0 0 1
Coxa plana; Sensorineural hearing loss; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Telangiectasia of the skin 1 0 0 0 0 0 0 0 0 1
Cryptorchidism; Atrial septal defect; Global developmental delay; Abnormality of cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Duane anomaly; Chronic constipation; Ventricular septal defect; Asthma 0 0 1 0 0 0 0 0 0 1
Cryptorchidism; Esotropia; Plagiocephaly; Global developmental delay; Short stature; Inguinal hernia; Nystagmus; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizures; Failure to thrive; Growth delay; Receptive language delay; Abnormal facial shape; Unilateral renal agenesis; Anxiety; Missing ribs; Delayed gross motor development; Delayed fine motor development; Dilatation of the sinus of Valsalva 1 0 0 0 0 0 0 0 0 1
Cryptorchidism; Motor delay; Hallux valgus; Sacral dimple; Muscular hypotonia of the trunk; Ulnar deviation of the hand; Appendicular hypotonia; Absent vas deferens; Heart murmur 1 0 0 0 0 0 0 0 0 1
Cryptorchidism; Sensorineural hearing loss; High palate; Pes planus; Delayed speech and language development; Macrocephalus; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Cystic hygroma 0 1 0 0 0 0 0 0 0 1
Deafness, nonsyndromic sensorineural, mitochondrial 0 0 1 0 0 0 0 0 0 1
Deafness-infertility syndrome 1 0 0 0 0 0 0 0 0 1
Delayed puberty 0 1 0 0 0 0 0 0 0 1
Delayed speech and language development 0 0 1 0 0 0 0 0 0 1
Delayed speech and language development; Macrocephalus 0 0 1 0 0 0 0 0 0 1
Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait 1 0 0 0 0 0 0 0 0 1
Dentatorubral pallidoluysian atrophy 1 0 0 0 0 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 0 0 0 1
EEG abnormality; Hypoplasia of the uterus; Primary amenorrhea; Clinodactyly of the 5th toe; 3-4 toe syndactyly; Aplasia of the ovary; Abnormal sex determination 0 0 1 0 0 0 0 0 0 1
Epiblepharon of lower lid; Global developmental delay; Visual impairment; Feeding difficulties; Brachycephaly; Short lingual frenulum; Microcephaly; Intellectual disability; Downturned corners of mouth; Acromesomelia; Supraventricular tachycardia; Retinal dysplasia; Complete duplication of thumb phalanx; Midface retrusion; Recurrent hand flapping; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Epicanthus; Abnormality of the ear; Global developmental delay; Autistic behavior; Abnormal facial shape; Absent speech; Joint laxity; Achalasia; Abnormal muscle tone; Hypoplasia of the frontal lobes; Abnormality of the gastrointestinal tract; EEG with abnormally slow frequencies; Prominent forehead; Delayed myelination 1 0 0 0 0 0 0 0 0 1
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangiomas; 2-3 toe cutaneous syndactyly; Muscular hypotonia; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 1
Epicanthus; Cryptorchidism; Global developmental delay; Autistic behavior; Seizures; Low-set ears; Stereotypy; Absent speech; Myopia; Macrocephalus; Impaired social interactions; Coarse hair; Thick vermilion border; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 1
Epicanthus; Ebstein anomaly of the tricuspid valve; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Secundum atrial septal defect; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base 0 0 1 0 0 0 0 0 0 1
Epicanthus; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Behavioral abnormality; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Agenesis of corpus callosum; Gait imbalance; Poor motor coordination; Arnold-Chiari malformation; Cortical dysplasia; High, narrow palate; Increased mean corpuscular volume; Metopic synostosis; Heart murmur; Ventricular septal defect; Attention deficit hyperactivity disorder; Asthma 0 0 1 0 0 0 0 0 0 1
Epicanthus; Feeding difficulties; Scoliosis; Abnormality of earlobe; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Cerebral palsy; Seizures; EEG abnormality; Abnormal facial shape; Depressed nasal bridge; Short philtrum; Impaired social interactions; Myoclonus; Abnormality of the cerebral white matter; Medial flaring of the eyebrow; Toe walking; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Growth delay; Abnormal facial shape; Broad thumb; Cafe-au-lait spot; Depressed nasal bridge; Overlapping toe; Short philtrum; Hypoplastic labia majora; Thin upper lip vermilion; Microcephaly; Strabismus; Craniosynostosis; Accelerated skeletal maturation; Multiple palmar creases; Broad hallux phalanx 1 0 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Seizures; Eczema; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism 0 1 0 0 0 0 0 0 0 1
Epicanthus; Global developmental delay; Seizures; Micrognathia; Anteverted nares; Delayed speech and language development; Thin upper lip vermilion; Microcephaly; Upturned corners of mouth 1 0 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Coarctation of aorta; Global developmental delay; Inguinal hernia; Bilateral cryptorchidism; Downslanted palpebral fissures; Short neck; Thin vermilion border; Wide intermamillary distance; Wide nose; Hypospadias, penile; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum 1 0 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Esotropia; Hirsutism; Macrotia; Mandibular prognathia; Depressed nasal bridge; Prominent nose; Abnormality of the tongue; Gingival overgrowth; Delayed eruption of primary teeth; Thickened skin; Short columella; Facial hyperostosis; Concave nasal ridge; Long upper lip 0 1 0 0 0 0 0 0 0 1
Epicanthus; Hypertelorism; Micrognathia; Delayed speech and language development; Overlapping toe; Short philtrum; Macrocephalus; Dolichocephaly; Mild conductive hearing impairment; Severe global developmental delay; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypy; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Preaxial hand polydactyly; Decreased fetal movement; Broad toe; Absence seizures; Ankle contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border 0 0 1 0 0 0 0 0 0 1
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly 1 0 0 0 0 0 0 0 0 1
Epicanthus; Pectus excavatum; Telecanthus; Micrognathia; Abnormal facial shape; Abnormality of the outer ear; Osteoporosis; Coarse hair; Patchy alopecia; Frontal upsweep of hair; Recurrent fractures 0 1 0 0 0 0 0 0 0 1
Epicanthus; Seizures; Scoliosis; Clinodactyly of the 5th finger; Depressed nasal bridge; Dysphasia 0 0 1 0 0 0 0 0 0 1
Epicanthus; Seizures; Tapered finger; Spasticity; Microtia; Abnormal facial shape; Absent speech; Downslanted palpebral fissures; Preauricular pit; Specific learning disability; Hypospadias, penile; Microcephaly; Microretrognathia; Atresia of the external auditory canal; Abnormality of vision; Inability to walk; Posteriorly placed tongue; Intellectual disability, severe 0 1 0 0 0 0 0 0 0 1
Epicanthus; Short phalanx of finger; Hypertonia; Brachycephaly; Deeply set eye; Macrotia; Short nose; Wide mouth; Hydrocele testis; Umbilical hernia; Hypoplastic nasal bridge 1 0 0 0 0 0 0 0 0 1
Epicanthus; Talipes equinovarus; Psychotic episodes; Intellectual disability, mild; Joint hypermobility; Mild global developmental delay; Abnormal emotion/affect behavior 1 0 0 0 0 0 0 0 0 1
Epicanthus; Telecanthus; Global developmental delay; Hyperactivity; Growth delay; Abnormal facial shape; Anteverted nares; Wide nasal bridge; Thin upper lip vermilion; Cerebral calcification; Speech articulation difficulties; Midface retrusion; Short palpebral fissure 0 1 0 0 0 0 0 0 0 1
Expressive language delay; Abnormality of the skull; Abnormality of facial skeleton 0 0 1 0 0 0 0 0 0 1
Expressive language delay; Aggressive behavior; Joint hypermobility; Dyscalculia; Poor fine motor coordination 0 1 0 0 0 0 0 0 0 1
Expressive language delay; Growth delay; EEG abnormality; Receptive language delay; Intellectual disability, severe; Abnormality of nervous system physiology 0 1 0 0 0 0 0 0 0 1
Failure to thrive; Abnormal facial shape; Microcephaly; Intrauterine growth retardation 0 1 0 0 0 0 0 0 0 1
Failure to thrive; Feeding difficulties; Small for gestational age 0 0 1 0 0 0 0 0 0 1
Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Narrow mouth; Agitation; Nephrolithiasis; Poor eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizures; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III; Flat midface 1 0 0 0 0 0 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 0 0 0 0 0 1
Feeding difficulties in infancy; Oral cleft; Nasolacrimal duct obstruction 0 0 1 0 0 0 0 0 0 1
Fetal hemoglobin quantitative trait locus 2 0 1 0 0 0 0 0 0 0 1
Focal seizures with impairment of consciousness or awareness; Abnormal facial shape; Hydrocephalus; Dolichocephaly; High forehead; Absent septum pellucidum; Aqueductal stenosis; Persistent open anterior fontanelle; Dysplastic corpus callosum; Prominent forehead 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Hypoplasia of the frontal lobes; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Absent speech; Single transverse palmar crease; Gastroesophageal reflux; Gastrostomy tube feeding in infancy; Tetralogy of Fallot with absent pulmonary valve; Clinodactyly 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Arachnoid cyst; Delayed speech and language development; Obsessive-compulsive behavior; Sensory impairment; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Behavioral abnormality; Feeding difficulties; Oligohydramnios; Brachycephaly; Stereotypy; Abnormal facial shape; Delayed speech and language development; Downslanted palpebral fissures; Feeding difficulties in infancy; Protruding ear; Short philtrum; Specific learning disability; Thin upper lip vermilion; Microcephaly; Prominent nasal bridge; Psychosis; Inflexible adherence to routines or rituals; Brisk reflexes; Severe failure to thrive; Chronic diarrhea; Intention tremor; Poor speech; High, narrow palate; Tics; Abnormal emotion/affect behavior; Anteverted ears; Attention deficit hyperactivity disorder; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Enuresis; Behavioral abnormality; Self-injurious behavior; Receptive language delay; Depressivity; Delayed gross motor development; Developmental regression; Delayed fine motor development 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Receptive language delay; Delayed speech and language development; Impaired social interactions; Limited shoulder movement 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Low-set ears; Anteverted nares; Depressed nasal bridge; Short nose; Macrocephalus; Long philtrum; Prominent forehead; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Muscular hypotonia of the trunk; Clinodactyly of the 5th finger; Delayed speech and language development; Strabismus; Abnormal aggressive, impulsive or violent behavior; Severe global developmental delay 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Seizures; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Self-injurious behavior; Intellectual disability 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Autistic behavior; Specific learning disability 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Behavioral abnormality; Abnormal facial shape; Myopia; Hypopigmentation of the skin; Mottled pigmentation; Intellectual disability; Infantile spasms; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Behavioral abnormality; Sleep disturbance; Abnormal facial shape; Delayed speech and language development; Synophrys; Thin upper lip vermilion; Agitation; Self-biting; Smooth philtrum 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Brachycephaly; Delayed speech and language development; Open mouth; Recurrent bronchopulmonary infections; Protruding tongue; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Choreoathetosis; Dyskinesia; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Clinodactyly of the 5th finger; Delayed speech and language development; Pneumonia; Intellectual disability; Bronchiolitis; Asthma 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Dysarthria; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Eczema; Delayed speech and language development; Intellectual disability, mild 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Secundum atrial septal defect; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormality of facial skeleton; Tics; Attention deficit hyperactivity disorder 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Failure to thrive; Upslanted palpebral fissure; Feeding difficulties; Abnormal facial shape; Delayed speech and language development; Single transverse palmar crease; Thin upper lip vermilion; Long eyelashes; Hypoplastic toenails; Clinodactyly of the 5th toe; Decreased body weight; Persistent open anterior fontanelle; Relative macrocephaly; Prominent forehead 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Short stature; Microcephaly; Muscular hypotonia; Asthma 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Failure to thrive; Autism with high cognitive abilities; Colorectal polyposis 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Failure to thrive; Micrognathia; Feeding difficulties; Growth delay; Aspiration; Microtia; High forehead; Incomplete partition of the cochlea type II; Abnormality of the larynx; Premature thelarche; Abnormal hair pattern; Abnormality of renal cortex morphology; Morphological abnormality of the semicircular canal; Profound sensorineural hearing impairment 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Focal seizures 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Growth delay; Oral motor hypotonia; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the corpus callosum; Delayed speech and language development; Single transverse palmar crease; Drooling; Recurrent upper respiratory tract infections; Poor fine motor coordination; Infantile muscular hypotonia; Delayed fine motor development; Intellectual disability, severe; Setting-sun eye phenomenon; Perivascular spaces; Widened subarachnoid space; Profound global developmental delay; Recurrent bronchiolitis; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Cerebral white matter hypoplasia 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Infantile spasms 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Inguinal hernia; Spina bifida occulta; Abnormal facial shape; Delayed speech and language development 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Macrocephalus 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Autistic behavior; Feeding difficulties; Cafe-au-lait spot; Delayed speech and language development; Oppositional defiant disorder; Abnormal emotion/affect behavior; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Autistic behavior; Seizures; Absent speech; Delayed speech and language development; Epileptic spasms 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Bilateral sensorineural hearing impairment; Delayed gross motor development 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Cerebral palsy; Muscular hypotonia of the trunk; Absent speech; Polymicrogyria; Delayed gross motor development; Tetraparesis; Abnormality of the periventricular white matter; Diffuse white matter abnormalities; Infantile axial hypotonia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Delayed speech and language development 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Delayed speech and language development; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Microtia; Malar flattening; Abnormal facial shape; Delayed speech and language development; Round face; Short nose; Thickened nuchal skin fold 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizures; Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Neutropenia 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephalus; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Muscular hypotonia; Asthma 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Seizures 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Seizures; Behavioral abnormality; Delayed gross motor development; Speech articulation difficulties; Delayed fine motor development; Abnormal emotion/affect behavior 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Seizures; Exotropia; Hypospadias, penile; Split foot; Proximal tibial hypoplasia; Chronic sinusitis; Asthma 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Seizures; Microphthalmia; Reduced visual acuity 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Short stature; Failure to thrive; Growth delay; Microcephaly; Metatarsus adductus; Lower limb asymmetry; Tibial torsion 0 0 1 0 0 0 0 0 0 1
Global developmental delay; Specific learning disability 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Specific learning disability; Sensory impairment; Attention deficit hyperactivity disorder 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Tall stature; Macrocephalus; Generalized myoclonic seizures; Premature eruption of permanent teeth; Abnormal ventricular septum morphology; Ventricular septal defect 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Tall stature; Macrocephalus; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Upslanted palpebral fissure; Behavioral abnormality; Aggressive behavior; High palate; Pes planus; Abnormal facial shape; Delayed speech and language development; Autism with high cognitive abilities; Abnormal aggressive, impulsive or violent behavior; Abnormal subcutaneous fat tissue distribution; Abnormal hair pattern; Prominent forehead; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 0 0 0 0 0 1
Growth delay; Hypospadias, penile; Abnormality of the genitourinary system; Hypoplasia of penis; Mild global developmental delay; Abnormal scrotal rugation 0 0 1 0 0 0 0 0 0 1
Hemangioma; Macrocephalus; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Hematologic neoplasm 1 0 0 0 0 0 0 0 0 1
Hermansky-Pudlak syndrome 6 1 0 0 0 0 0 0 0 0 1
Hirsutism; Abnormal facial shape; Partial duplication of thumb phalanx; Intellectual disability, severe; Clinodactyly 0 1 0 0 0 0 0 0 0 1
Holoprosencephaly 2 0 0 0 0 1 0 0 0 0 1
Holoprosencephaly 3 1 0 0 0 0 0 0 0 0 1
Holoprosencephaly 4 0 0 0 0 1 0 0 0 0 1
Holoprosencephaly 5 1 0 0 0 0 0 0 0 0 1
Hyperactivity; Short attention span; Delayed speech and language development; Specific learning disability; Impaired social interactions 0 0 1 0 0 0 0 0 0 1
Hypercoagulability 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Autism with high cognitive abilities 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Blepharophimosis; Micrognathia; Upslanted palpebral fissure; Proximal placement of thumb; Macrocephalus; Dolichocephaly; Ventriculomegaly; Mild global developmental delay 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Autistic behavior; Micrognathia; Short phalanx of finger; Growth delay; Low-set ears; 2-3 toe syndactyly; Absent speech; Single transverse palmar crease; Short toe; Sensory impairment; Bilateral conductive hearing impairment; Attention deficit hyperactivity disorder 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Motor delay; Short chin; Low-set ears; Delayed speech and language development; Depressed nasal bridge; Frontal bossing; Triangular face; Impaired social interactions; Poor eye contact; Athetosis; Uncontrolled eye movements; Prominent forehead; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep disturbance; Tall stature; Eczema; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Neutropenia; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Sensory impairment; Delayed fine motor development; Abnormality of serine family amino acid metabolism; Bronchiolitis; Monocytopenia; Abnormal emotion/affect behavior; Encopresis; Asthma 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizures; Feeding difficulties; Vomiting; EEG abnormality; Anteverted nares; Cafe-au-lait spot; Conductive hearing impairment; Decreased testicular size; Delayed speech and language development; Wide nasal bridge; Thin upper lip vermilion; Recurrent otitis media; Downturned corners of mouth; Clinodactyly of the 3rd toe; Finger clinodactyly; Small scrotum; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Hypertelorism; Kyphoscoliosis; Delayed speech and language development; Intellectual disability; Severe global developmental delay 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Triphalangeal thumb; Global developmental delay; Motor delay; Low-set ears; Anteriorly placed anus; Broad forehead; Broad hallux; Delayed speech and language development; Frontal bossing; High forehead; Joint hypermobility; Bilateral triphalangeal thumbs; Finger syndactyly 0 0 1 0 0 0 0 0 0 1
Hypertelorism; Wide nose; Depressed nasal ridge 0 0 1 0 0 0 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Abnormality of the skeletal system; Anosmia; Intellectual disability 0 0 1 0 0 0 0 0 0 1
Hypoplastic left heart syndrome 0 1 0 0 0 0 0 0 0 1
Insulin resistance; Bipolar affective disorder; Increased body weight; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 0 0 0 1
Intellectual disability, mild 0 0 1 0 0 0 0 0 0 1
Intestinal malrotation 1 0 0 0 0 0 0 0 0 1
Inversion of nipple; Global developmental delay; Short stature; Failure to thrive; Abnormal facial shape; Agenesis of permanent teeth; Cafe-au-lait spot; Delayed speech and language development; Prominent nose; Numerous nevi; Decreased body weight; Attached earlobe; Prominent digit pad; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Irido-corneo-trabecular dysgenesis; Glaucoma; Seizures; Small face; Intellectual disability; Peripheral arterial stenosis; Severe global developmental delay; Unilateral microphthalmos 0 0 1 0 0 0 0 0 0 1
Isolated growth hormone deficiency type 1B 1 0 0 0 0 0 0 0 0 1
Joubert syndrome 4 1 0 0 0 0 0 0 0 0 1
Juvenile polyposis syndrome 1 0 0 0 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 0 0 0 1
Lambdoidal craniosynostosis; Torticollis; Plagiocephaly; Behavioral abnormality; High palate; Exotropia; Specific learning disability; Triangular face; Mild conductive hearing impairment; Abnormality of facial skeleton; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Leigh syndrome 1 0 0 0 0 0 0 0 0 1
Male infertility 0 0 1 0 0 0 0 0 0 1
Male infertility; Oligospermia 0 0 1 0 0 0 0 0 0 1
Male infertility; Visual impairment; Upslanted palpebral fissure; Syndactyly; Microtia; Azoospermia; Abnormal facial shape; Delayed speech and language development; Facial asymmetry; Aphasia; Delayed fine motor development; Unilateral strabismus; Varicocele; Attention deficit hyperactivity disorder; Oligospermia 0 0 1 0 0 0 0 0 0 1
Megalocornea; Scoliosis; Congenital glaucoma; Ventricular septal defect 0 0 1 0 0 0 0 0 0 1
Meningioma 0 1 0 0 0 0 0 0 0 1
Mental retardation, autosomal dominant 1 1 0 0 0 0 0 0 0 0 1
Mental retardation, autosomal dominant 26 0 0 1 0 0 0 0 0 0 1
Mental retardation-hypotonic facies syndrome X-linked, 1 0 0 0 0 0 0 0 0 1 1
Microcephaly; Abnormality of brain morphology 0 1 0 0 0 0 0 0 0 1
Micrognathia; Aggressive behavior; High palate; Deeply set eye; Micropenis; Prominent nasal bridge; Large hands; Large for gestational age; Mild global developmental delay; Short palpebral fissure 0 1 0 0 0 0 0 0 0 1
Micrognathia; Microtia 0 0 1 0 0 0 0 0 0 1
Motor delay; Autistic behavior; Focal seizures with impairment of consciousness or awareness; Febrile seizures; Delayed speech and language development; Specific learning disability; Facial hypotonia; Drooling; Intellectual disability, moderate; Perivascular spaces 0 0 1 0 0 0 0 0 0 1
Motor delay; Autistic behavior; Seizures; Delayed speech and language development; Mild global developmental delay; Encopresis 1 0 0 0 0 0 0 0 0 1
Motor delay; Enuresis; Upslanted palpebral fissure; Abnormal eyebrow morphology; Specific learning disability; Speech apraxia; Impaired visuospatial constructive cognition; Short palpebral fissure 0 0 1 0 0 0 0 0 0 1
Motor delay; Expressive language delay; Hyperactivity; Seizures; Aggressive behavior; Receptive language delay; Sensory impairment; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Motor delay; Scoliosis; Downslanted palpebral fissures; Specific learning disability; Stenosis of the external auditory canal; Tracheoesophageal fistula; Bilateral conductive hearing impairment; Asymmetry of the mandible; Hypoplasia of the premaxilla; Overbite 1 0 0 0 0 0 0 0 0 1
Motor delay; Seizures; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Hypospadias, penile; Recurrent otitis media; Retinal coloboma; Abnormality of the periventricular white matter; Mild conductive hearing impairment; Severe global developmental delay 0 0 1 0 0 0 0 0 0 1
Motor delay; Short attention span; Delayed speech and language development; Facial asymmetry; Intellectual disability, mild; Few cafe-au-lait spots; Severe global developmental delay; Abducens palsy; Abnormal emotion/affect behavior 0 0 1 0 0 0 0 0 0 1
Motor delay; Sleep disturbance; Absent speech; Delayed speech and language development; Joint hypermobility; Intellectual disability, severe; Abnormality of the gastrointestinal tract; EEG with temporal focal spikes; Stereotypical hand wringing 0 0 1 0 0 0 0 0 0 1
Motor delay; Spasticity; Microcephaly; Inability to walk 1 0 0 0 0 0 0 0 0 1
Multicystic kidney dysplasia; Single umbilical artery; Ventriculomegaly; Cerebellar dysplasia 0 0 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Seizures; Global brain atrophy; Macular hypopigmented whorls, streaks, and patches 0 0 1 0 0 0 0 0 0 1
Muscular dystrophy; Seizures; Short chin; Feeding difficulties; High palate; Constipation; Eczema; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Nasal speech; Abnormality of the pinna; Macrocephalus; Underdeveloped nasal alae; Psychotic episodes; Large for gestational age; Sparse hair; Moderate global developmental delay; Abnormality of serine metabolism; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Neoplasm of ovary 0 1 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Abnormal facial shape 0 1 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Behavioral abnormality; Abnormal facial shape; Skin rash; Pustule; Attention deficit hyperactivity disorder; Erythematous papule 0 0 1 0 0 0 0 0 0 1
Obesity; Global developmental delay; Motor delay; Feeding difficulties; Polyhydramnios; Delayed speech and language development; Short philtrum; Neonatal hypotonia; Downturned corners of mouth; Acromesomelia; Lipedema 1 0 0 0 0 0 0 0 0 1
Obesity; Global developmental delay; Seizures; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Overbite 1 0 0 0 0 0 0 0 0 1
Obesity; Motor delay; Autistic behavior; Behavioral abnormality; Delayed speech and language development; Obsessive-compulsive behavior 0 1 0 0 0 0 0 0 0 1
Obesity; Motor delay; Self-injurious behavior; Sleep disturbance; Depressivity; Overgrowth; Delayed speech and language development; Macrocephalus; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay 1 0 0 0 0 0 0 0 0 1
Obesity; Motor delay; Short stature; Upslanted palpebral fissure; Frequent falls; Delayed speech and language development; Thin upper lip vermilion; Intellectual disability, mild; Generalized tonic-clonic seizures; Generalized myoclonic seizures; Clumsiness; Developmental regression; Unilateral ptosis; Severe Myopia; Epileptiform EEG discharges; Camptodactyly of finger 0 0 1 0 0 0 0 0 0 1
Obesity; Tetralogy of Fallot; Short stature; Abnormality of cardiovascular system morphology; Abnormal facial shape; Intellectual disability 0 0 1 0 0 0 0 0 0 1
Oligomenorrhea; Aplasia/Hypoplasia of the breasts 0 0 1 0 0 0 0 0 0 1
Oral-facial-digital syndrome 0 0 0 0 1 0 0 0 0 1
Overgrowth; Decreased testicular size; Pneumothorax; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Partial agenesis of the corpus callosum; Ventriculomegaly 0 1 0 0 0 0 0 0 0 1
Patent foramen ovale; Abnormal facial shape; Patent ductus arteriosus 0 1 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Failure to thrive; Hearing impairment; Hypoglycemia; Optic nerve hypoplasia; Absent speech; Abnormality of the dentition; Carious teeth; Intellectual disability; Ventriculomegaly; Inability to walk; Severe Myopia; Gastrostomy tube feeding in infancy; Cleft palate 1 0 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Hemangioma; Synophrys; Narrow mouth; Dolichocephaly; Long eyelashes; Joint hypermobility; Frontal upsweep of hair; Narrow naris; Sydney crease; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Retrognathia; Hallux valgus; Scoliosis; Arachnodactyly; Downslanted palpebral fissures; Narrow face; Long face; Cutis marmorata; Short metatarsal 0 0 1 0 0 0 0 0 0 1
Pectus excavatum; High palate; Absent speech; Partial agenesis of the corpus callosum; Microcephaly; Inability to walk; Shortening of all distal phalanges of the fingers; Lower limb hypertonia; Hypoplasia of the frontal lobes; Hypoplasia of the premaxilla; Intellectual disability, severe; Upper limb hypertonia 0 1 0 0 0 0 0 0 0 1
Pelvic kidney; Severe intrauterine growth retardation; Abnormal renal morphology 0 1 0 0 0 0 0 0 0 1
Persistent fetal circulation; Global developmental delay; Failure to thrive; Microcephaly; Gastroesophageal reflux; Pulmonary lymphangiectasia 1 0 0 0 0 0 0 0 0 1
Phenylketonuria 1 0 0 0 0 0 0 0 0 1
Plagiocephaly; Global developmental delay; Pyloric stenosis; Hypospadias, penile; Vesicoureteral reflux; Aganglionic megacolon; Ventricular septal defect 0 0 1 0 0 0 0 0 0 1
Plagiocephaly; Hearing impairment; Cognitive impairment 0 0 1 0 0 0 0 0 0 1
Polydactyly; Retrognathia; Abnormality of the mandible 0 0 1 0 0 0 0 0 0 1
Poor coordination; Autistic behavior; Failure to thrive; Specific learning disability; Microcephaly; Hearing abnormality; Generalized hypotonia; Joint hypermobility; Pes cavus; Congenital finger flexion contractures; Mild global developmental delay; Oral motor hypotonia; Attention deficit hyperactivity disorder; Peripheral neuropathy 1 0 0 0 0 0 0 0 0 1
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma 1 0 0 0 0 0 0 0 0 1
Pulmonic stenosis; Robin sequence; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 0 0 0 1
Rieger syndrome; Global developmental delay 0 1 0 0 0 0 0 0 0 1
Robin sequence 0 0 1 0 0 0 0 0 0 1
Robin sequence; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Rocker bottom foot; Mild global developmental delay; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Scoliosis; Pulmonary hypoplasia; Labial hypoplasia; Congenital diaphragmatic hernia; Bicornuate uterus; Cutis laxa; Small thenar eminence; Olfactory lobe agenesis; Abnormality of the abdominal wall; Thoracic hypoplasia; Clinodactyly; Camptodactyly 0 0 1 0 0 0 0 0 0 1
Seizures; Abnormal facial shape; Involuntary movements; Ventricular septal defect 0 0 1 0 0 0 0 0 0 1
Seizures; Absent speech; Blindness; Inability to walk; Severe global developmental delay 0 1 0 0 0 0 0 0 0 1
Seizures; Hyperthyroidism; Abnormality of the pinna; Convex nasal ridge; Delayed speech and language development; Short philtrum; Dolichocephaly; Long face; Broad nasal tip; Strabismus; Severe global developmental delay; Muscular hypotonia 1 0 0 0 0 0 0 0 0 1
Seizures; Self-injurious behavior; Partial agenesis of the corpus callosum; Epileptiform EEG discharges; Severe global developmental delay; Delayed myelination 0 0 1 0 0 0 0 0 0 1
Seizures; Short stature; Failure to thrive; Obsessive-compulsive behavior; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 0 0 0 0 0 0 1
Seizures; Spasticity; Absent speech; Microcephaly; Inability to walk; Profound static encephalopathy 0 0 1 0 0 0 0 0 0 1
Seizures; Specific learning disability 0 0 1 0 0 0 0 0 0 1
Sensorineural hearing loss; Seizures; Intellectual disability; Muscular hypotonia 0 1 0 0 0 0 0 0 0 1
Sensorineural hearing loss; Sleep disturbance; Chronic otitis media; Chronic diarrhea; Episodic abdominal pain; Abnormality of dental morphology; Facial palsy; Cementoma; Ossifying fibroma of the jaw 0 0 1 0 0 0 0 0 0 1
Severe short stature 0 0 1 0 0 0 0 0 0 1
Short chin; Aplasia of the nose; Midface retrusion 0 0 1 0 0 0 0 0 0 1
Short stature 1 0 0 0 0 0 0 0 0 1
Short stature; Abnormality of prenatal development or birth 0 0 1 0 0 0 0 0 0 1
Short stature; Decreased body weight 0 0 1 0 0 0 0 0 0 1
Short stature; Delayed puberty 0 0 1 0 0 0 0 0 0 1
Short stature; Delayed skeletal maturation 0 0 1 0 0 0 0 0 0 1
Short stature; Growth delay; Abnormal facial shape; Microcephaly; Intellectual disability; Decreased body weight; Abnormality of digit; Heart murmur 0 0 1 0 0 0 0 0 0 1
Slurred speech 0 1 0 0 0 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 0 0 0 0 1
Spastic paraplegia 11, autosomal recessive 1 0 0 0 0 0 0 0 0 1
Speech apraxia 0 0 1 0 0 0 0 0 0 1
Spherocytosis type 2 1 0 0 0 0 0 0 0 0 1
Split-Hand/Foot Malformation 1 0 0 0 0 0 0 0 0 1
Talipes equinovarus; Seizures; Short stature; Behavioral abnormality; Aggressive behavior; Absent speech; Microcephaly; Lower limb hypertonia; Severe global developmental delay; Muscular hypotonia 0 0 1 0 0 0 0 0 0 1
Telecanthus; Global developmental delay; Malar flattening; Specific learning disability 0 0 1 0 0 0 0 0 0 1
Tracheoesophageal fistula 1 0 0 0 0 0 0 0 0 1
Type B brachydactyly; Congenital cataract; Fused teeth; Seizures; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus 1 0 0 0 0 0 0 0 0 1
Uniparental disomy, paternal, chromosome 14 1 0 0 0 0 0 0 0 0 1
Velopharyngeal insufficiency; Pulmonary hypoplasia; Epistaxis; Nasal speech; Speech apraxia; Recurrent otitis media; Autism with high cognitive abilities; Abnormality of the respiratory system; Bilateral lung agenesis; Asthma 0 0 1 0 0 0 0 0 0 1
buprenorphine response - Dosage 0 0 0 0 0 0 1 0 0 1
fentanyl response - Dosage 0 0 0 0 0 0 1 0 0 1
hmg coa reductase inhibitors response - Toxicity/ADR 0 0 0 0 0 0 1 0 0 1
mTOR Inhibitor response 0 0 0 0 0 0 1 0 0 1
meperidine response - Dosage 0 0 0 0 0 0 1 0 0 1
morphine response - Dosage 0 0 0 0 0 0 1 0 0 1
opioids response - Dosage 0 0 0 0 0 0 1 0 0 1
pentazocine response - Dosage 0 0 0 0 0 0 1 0 0 1
simvastatin response - Toxicity/ADR 0 0 0 0 0 0 1 0 0 1
warfarin response - Dosage 0 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 75
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association drug response other not provided total
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 3 0 0 5 5778 0 0 0 0 5786
ISCA site 19 321 0 2733 233 1158 0 0 0 0 4444
GeneDx 6 0 22 43 355 0 0 0 0 426
ISCA site 1 50 15 151 85 3 0 0 0 0 304
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 0 0 256 256
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 66 49 132 0 0 0 0 0 0 247
ISCA site 4 2 0 16 178 44 0 0 0 0 240
ISCA site 6 3 0 1 35 105 0 0 0 0 144
Quest Diagnostics Nichols Institute San Juan Capistrano 5 0 60 39 0 0 0 0 0 104
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 94 0 94
ISCA site 7 0 0 0 1 66 0 0 0 0 67
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 8 50 0 0 0 0 0 61
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 56 0 0 0 0 56
GeneReviews 42 0 1 0 4 0 0 0 0 47
ISCA site 8 0 0 2 0 27 0 0 0 0 29
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 7 3 19 0 0 0 0 0 0 29
Clinical Genetics, Erasmus University Medical Center 0 0 2 21 5 0 0 0 0 28
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 3 1 9 13 0 0 0 0 0 26
Geschwind lab,University of California Los Angeles 20 3 2 0 0 0 0 0 0 25
ISCA site 2 0 0 3 0 21 0 0 0 0 24
Liping Wei Laboratory,Peking University 10 13 0 0 0 0 0 0 0 23
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 10 2 0 0 0 0 0 12
ISCA site 17 0 0 5 0 6 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 11 11
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 5 6 0 0 0 0 0 11
Medical Genetics Laboratories, Baylor College of Medicine 7 0 0 0 0 0 0 0 0 7
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 6 0 0 0 0 0 0 6
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 0 0 5 5
ISCA site 14 0 0 5 0 0 0 0 0 0 5
ISCA site 3 3 0 1 1 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 1 0 0 0 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 1 0 0 0 0 4
ITMI 0 0 0 0 0 0 0 0 4 4
Cytogenetics and Genomics Laboratory,University of Washington 0 0 0 1 3 0 0 0 0 4
PharmGKB 0 0 0 0 0 0 3 0 0 3
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 2 0 0 0 0 3
Harris Lab, University of Minnesota 0 0 0 0 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA1) 0 0 2 0 0 0 0 0 0 2
ISCA site 15 0 0 2 0 0 0 0 0 0 2
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 2 0 0 0 0 0 0 2
Department of Orthopeadics and Traumatology,Nanfang Hospital 0 0 0 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 1 0 0 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 1 0 0 0 0 0 0 0 0 1
Functional Genomics, Thrombosis Research Institute, India 0 0 0 0 0 0 0 0 1 1
Fujian Institute of Hematology,Fujian Medical University 1 0 0 0 0 0 0 0 0 1
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 0 0 0 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Department of Zoology Govt. MVM College 0 1 0 0 0 0 0 0 0 1
Devine Lab Institute for Genome Sciences, University of Maryland School of Medicine 0 0 0 0 0 0 0 0 1 1
ISCA site 10 0 0 1 0 0 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 1
Chan Lab,Boston Children's Hospital 0 1 0 0 0 0 0 0 0 1
Abrahams Lab,Albert Einstein College of Medicine 0 1 0 0 0 0 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 1 0 0 0 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 1 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 0 0 0 1
Michaelson Lab,University of Iowa 0 0 1 0 0 0 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 1 0 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 1

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