ClinVar Miner

Variants from Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

Location: United States  Primary collection method: research
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 total
66 48 132 0 0 246

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
​intergenic 66 48 132 246

Condition and significance breakdown #

Total conditions: 226
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Condition pathogenic likely pathogenic uncertain significance total
Autistic behavior 2 0 6 8
Global developmental delay 1 2 5 8
Abnormality of prenatal development or birth 1 1 1 3
Failure to thrive 0 0 3 3
Seizure 0 1 2 3
Encephalopathy 0 1 1 2
Abnormal facial shape 0 0 1 1
Abnormal facial shape; Intellectual disability 1 0 0 1
Abnormal pinna morphology; Congenital sensorineural hearing impairment; Severe sensorineural hearing impairment 0 0 1 1
Abnormal pinna morphology; Mild global developmental delay; Chronic constipation 0 0 1 1
Abnormality of the eye; Global developmental delay 0 0 1 1
Abnormality of the nervous system 0 0 1 1
Abnormality of the nervous system; Atypical behavior; Abnormality of the genital system; Specific learning disability; Abnormality of the urinary system; Abnormality of vision; Abnormality of limbs 0 1 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 1
Alveolar capillary dysplasia with pulmonary venous misalignment; Global developmental delay; Failure to thrive; Microcephaly; Gastroesophageal reflux; Pulmonary lymphangiectasia 1 0 0 1
Aplasia of the uterus 0 0 1 1
Atrial septal defect; Autistic behavior; Tracheomalacia; Gastroesophageal reflux 0 1 0 1
Atypical behavior 0 0 1 1
Atypical behavior; Abnormal facial shape 1 0 0 1
Atypical behavior; Impaired visuospatial constructive cognition; Mild global developmental delay 0 0 1 1
Autistic behavior; Growth delay; Agitation; Anxiety; Intellectual disability; Poor speech; Recurrent fractures; Reduced bone mineral density 1 0 0 1
Autistic behavior; Hemangioma; Eczematoid dermatitis; Macrotia; Arachnodactyly; High forehead; Intellectual disability, mild; Sandal gap; Mild global developmental delay; Narrow nasal base 0 0 1 1
Autistic behavior; Intellectual disability, mild; Hypotonia 0 0 1 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 1
Autistic behavior; Seizure; EEG with temporal focal spikes 0 0 1 1
Bladder exstrophy 0 0 1 1
Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; 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 1
Cafe au lait spots, multiple; Seizure; Global brain atrophy; Macular hypopigmented whorls, streaks, and patches 0 0 1 1
Cardiac arrhythmia; Diabetes mellitus type 1; Atrial septal defect; Tricuspid regurgitation; Abnormal facial shape; Strabismus; Mitral regurgitation; Abnormal autonomic nervous system physiology; Abnormal periventricular white matter morphology; Ectopic pancreatic tissue; Abnormality of skin physiology; Abnormal renal morphology; Vasovagal syncope 0 0 1 1
Cataract; Ambiguous genitalia; Penile hypospadias 1 0 0 1
Cerebellar ataxia; Global developmental delay; Absent speech; Spastic diplegia; Drooling 0 0 1 1
Cerebellar ataxia; Global developmental delay; Atypical behavior; Generalized-onset seizure; Recurrent fractures 0 1 0 1
Cleft soft palate; Isolated Pierre-Robin syndrome; 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; Abnormal occipital bone morphology 0 0 1 1
Cleft soft palate; Isolated Pierre-Robin syndrome; Seizure; Micrognathia; Microcephaly; Gynecomastia; Decreased response to growth hormone stimulation test; Intellectual disability; Acute pancreatitis; Inability to walk; Abnormal subcutaneous fat tissue distribution; Gastrostomy tube feeding in infancy; Movement disorder 0 0 1 1
Cleft upper lip; Mixed hearing impairment; Abnormality of the inner ear; Double aortic arch; Hypotonia; Asthma 0 0 1 1
Cleft upper lip; Motor delay; Enuresis; Abnormal skull morphology; Delayed speech and language development; Facial asymmetry; Anxiety; Intellectual disability, mild; Mild global developmental delay; Heart murmur 1 0 0 1
Clubfoot; Seizure; Short stature; Atypical behavior; Aggressive behavior; Absent speech; Microcephaly; Lower limb hypertonia; Severe global developmental delay; Hypotonia 0 0 1 1
Coarctation of aorta; Atrial septal defect; Abnormal cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Hypotonia; Patent ductus arteriosus 0 1 0 1
Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect 0 0 1 1
Congenital cerebellar hypoplasia; Abnormal facial shape; Abnormal ileum morphology; Abnormal calvaria morphology; Bronchogenic cyst 0 0 1 1
Congenital diaphragmatic hernia 0 0 1 1
Congenital vertical talus; Mild global developmental delay; Hypotonia 0 1 0 1
Craniosynostosis 4; Torticollis; Plagiocephaly; Atypical behavior; High palate; Exotropia; Specific learning disability; Triangular face; Mild conductive hearing impairment; Abnormal facial skeleton morphology; Attention deficit hyperactivity disorder 0 0 1 1
Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Chronic constipation; Ventricular septal defect; Asthma 0 0 1 1
Cryptorchidism; Esotropia; Plagiocephaly; Global developmental delay; Short stature; Inguinal hernia; Nystagmus; Attention deficit hyperactivity disorder 0 0 1 1
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizure; 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 1
Cryptorchidism; Motor delay; Hallux valgus; Sacral dimple; Axial hypotonia; Ulnar deviation of the hand; Appendicular hypotonia; Absent vas deferens; Heart murmur 1 0 0 1
Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia 1 0 0 1
Cystic hygroma 0 1 0 1
Delayed speech and language development; Abnormality of speech or vocalization; Obsessive-compulsive trait 1 0 0 1
Delayed speech and language development; Macrocephaly 0 0 1 1
Developmental cataract; Macrocephaly; Mild global developmental delay; Widened subarachnoid space 0 0 1 1
EEG abnormality; Uterine hypoplasia; Primary amenorrhea; Clinodactyly of the 5th toe; 3-4 toe syndactyly; Aplasia of the ovary; Abnormal sex determination 0 0 1 1
Ear malformation; Olivopontocerebellar atrophy; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormal retinal vascular morphology; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormal nasopharyngeal adenoid morphology 0 0 1 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; Hypotonia 1 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 hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus 1 0 0 1
Epicanthus; Clubfoot; Psychotic episodes; Intellectual disability, mild; Joint hypermobility; Mild global developmental delay; Abnormal emotion 1 0 0 1
Epicanthus; Corpus callosum, agenesis of; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Atypical behavior; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Gait imbalance; Poor motor coordination; 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 1
Epicanthus; Craniosynostosis syndrome; 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; Accelerated skeletal maturation; Multiple palmar creases; Broad hallux phalanx 1 0 0 1
Epicanthus; Cryptorchidism; Global developmental delay; Autistic behavior; Seizure; Low-set ears; Stereotypic movement disorder; Absent speech; Myopia; Macrocephaly; Impaired social interactions; Coarse hair; Thick vermilion border; Attention deficit hyperactivity disorder 1 0 0 1
Epicanthus; Ear malformation; 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 1
Epicanthus; Ebstein anomaly; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Atrial septal defect, ostium secundum type; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae of the anterior chamber; 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 1
Epicanthus; Feeding difficulties; Scoliosis; Abnormal earlobe morphology; Hypotonia 0 0 1 1
Epicanthus; Global developmental delay; Cerebral palsy; Seizure; EEG abnormality; Abnormal facial shape; Depressed nasal bridge; Short philtrum; Impaired social interactions; Myoclonus; Abnormal cerebral white matter morphology; Medial flaring of the eyebrow; Tip-toe gait; Hypotonia 0 1 0 1
Epicanthus; Global developmental delay; Seizure; Eczematoid dermatitis; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism 0 1 0 1
Epicanthus; Global developmental delay; Seizure; Micrognathia; Anteverted nares; Delayed speech and language development; Thin upper lip vermilion; Microcephaly; Upturned corners of mouth 1 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; Penile hypospadias; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum 1 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 1
Epicanthus; Hypertelorism; Micrognathia; Delayed speech and language development; Overlapping toe; Short philtrum; Macrocephaly; Dolichocephaly; Mild conductive hearing impairment; Severe global developmental delay; Hypotonia 0 0 1 1
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; 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; Generalized non-motor (absence) seizure; Ankle flexion 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 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 1
Epicanthus; Pectus excavatum; Telecanthus; Alopecia areata; Micrognathia; Abnormal facial shape; Abnormality of the outer ear; Osteoporosis; Coarse hair; Frontal upsweep of hair; Recurrent fractures 0 1 0 1
Epicanthus; Seizure; Scoliosis; Clinodactyly of the 5th finger; Depressed nasal bridge; Dysphasia 0 0 1 1
Epicanthus; Seizure; Tapered finger; Spasticity; Microtia; Abnormal facial shape; Absent speech; Downslanted palpebral fissures; Preauricular pit; Specific learning disability; Penile hypospadias; Microcephaly; Microretrognathia; Atresia of the external auditory canal; Abnormality of vision; Inability to walk; Posteriorly placed tongue; Intellectual disability, severe 0 1 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 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 1
Expressive language delay; Abnormal skull morphology; Abnormal facial skeleton morphology 0 0 1 1
Expressive language delay; Aggressive behavior; Joint hypermobility; Dyscalculia; Poor fine motor coordination 0 1 0 1
Expressive language delay; Growth delay; EEG abnormality; Receptive language delay; Intellectual disability, severe; Abnormal nervous system physiology 0 1 0 1
Failure to thrive; Feeding difficulties; Small for gestational age 0 0 1 1
Failure to thrive; Fetal growth restriction; Abnormal facial shape; Microcephaly 0 1 0 1
Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Malar flattening; Narrow mouth; Agitation; Nephrolithiasis; Reduced eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizure; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III 1 0 0 1
Focal impaired awareness seizure; Abnormal facial shape; Hydrocephalus; Dolichocephaly; High forehead; Absent septum pellucidum; Aqueductal stenosis; Persistent open anterior fontanelle; Dysplastic corpus callosum; Prominent forehead 0 0 1 1
Global developmental delay; Abnormal facial shape; Hypoplasia of the frontal lobes; Hypotonia 1 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 1
Global developmental delay; Arachnoid cyst; Delayed speech and language development; Compulsive behaviors; Somatic sensory dysfunction; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 1
Global developmental delay; Atypical behavior; Abnormal facial shape; Myopia; Hypopigmentation of the skin; Mottled pigmentation; Intellectual disability; Infantile spasms; Hypotonia 0 0 1 1
Global developmental delay; Atypical behavior; Sleep abnormality; Abnormal facial shape; Delayed speech and language development; Synophrys; Thin upper lip vermilion; Agitation; Self-biting; Smooth philtrum 0 0 1 1
Global developmental delay; Autistic behavior 1 0 0 1
Global developmental delay; Autistic behavior; Atypical behavior; Feeding difficulties; Oligohydramnios; Brachycephaly; Stereotypic movement disorder; 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; Psychotic disorder; Inflexible adherence to routines; Brisk reflexes; Severe failure to thrive; Chronic diarrhea; Intention tremor; Poor speech; High, narrow palate; Tics; Abnormal emotion; Anteverted ears; Attention deficit hyperactivity disorder; Hypotonia 1 0 0 1
Global developmental delay; Autistic behavior; Axial hypotonia; Clinodactyly of the 5th finger; Delayed speech and language development; Strabismus; Abnormal aggressive, impulsive or violent behavior; Severe global developmental delay 0 1 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Enuresis; Atypical behavior; Self-injurious behavior; Receptive language delay; Depression; Delayed gross motor development; Developmental regression; Delayed fine motor development 0 0 1 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 1
Global developmental delay; Autistic behavior; Low-set ears; Anteverted nares; Depressed nasal bridge; Short nose; Macrocephaly; Long philtrum; Prominent forehead; Hypotonia 0 1 0 1
Global developmental delay; Autistic behavior; Seizure; Hypotonia 0 1 0 1
Global developmental delay; Autistic behavior; Self-injurious behavior; Intellectual disability 0 1 0 1
Global developmental delay; Autistic behavior; Specific learning disability 0 0 1 1
Global developmental delay; Brachycephaly; Delayed speech and language development; Open mouth; Recurrent bronchopulmonary infections; Protruding tongue; Hypotonia 0 0 1 1
Global developmental delay; Choreoathetosis; Dyskinesia; Hypotonia 0 0 1 1
Global developmental delay; Dysarthria; Hypotonia 1 0 0 1
Global developmental delay; Eczematoid dermatitis; Delayed speech and language development; Intellectual disability, mild 1 0 0 1
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; 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; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder 0 1 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 1
Global developmental delay; Expressive language delay; Short stature; Microcephaly; Hypotonia; Asthma 0 1 0 1
Global developmental delay; Failure to thrive; Autism with high cognitive abilities; Colorectal polyposis 0 0 1 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; Abnormal renal cortex morphology; Abnormal semicircular canal morphology; Profound sensorineural hearing impairment 1 0 0 1
Global developmental delay; Focal-onset seizure 1 0 0 1
Global developmental delay; Growth delay; Oral motor hypotonia; Hypotonia 0 1 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; Dilation of Virchow-Robin spaces; Widened subarachnoid space; Profound global developmental delay; Recurrent bronchiolitis; Hypotonia 1 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Cerebral white matter hypoplasia 0 1 0 1
Global developmental delay; Infantile spasms 1 0 0 1
Global developmental delay; Inguinal hernia; Spina bifida occulta; Abnormal facial shape; Delayed speech and language development 1 0 0 1
Global developmental delay; Macrocephaly 0 0 1 1
Global developmental delay; Motor delay; Autistic behavior; Feeding difficulties; Cafe-au-lait spot; Delayed speech and language development; Oppositional defiant disorder; Abnormal emotion; Attention deficit hyperactivity disorder 0 0 1 1
Global developmental delay; Motor delay; Autistic behavior; Seizure; Absent speech; Delayed speech and language development; Epileptic spasm 0 0 1 1
Global developmental delay; Motor delay; Bilateral sensorineural hearing impairment; Delayed gross motor development 0 0 1 1
Global developmental delay; Motor delay; Cerebral palsy; Axial hypotonia; Absent speech; Polymicrogyria; Delayed gross motor development; Tetraparesis; Abnormal periventricular white matter morphology; Diffuse white matter abnormalities; Infantile axial hypotonia 0 0 1 1
Global developmental delay; Motor delay; Delayed speech and language development 0 1 0 1
Global developmental delay; Motor delay; Delayed speech and language development; Hypotonia 0 0 1 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 1
Global developmental delay; Motor delay; Short stature; Failure to thrive; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Exotropia; Vesicoureteral reflux; Microcephaly; Thrombocytopenia 1 0 0 1
Global developmental delay; Neutropenia 0 0 1 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; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma 0 1 0 1
Global developmental delay; Seizure 0 0 1 1
Global developmental delay; Seizure; Atypical behavior; Delayed gross motor development; Speech articulation difficulties; Delayed fine motor development; Abnormal emotion 0 0 1 1
Global developmental delay; Seizure; Exotropia; Penile hypospadias; Split foot; Proximal tibial hypoplasia; Chronic sinusitis; Asthma 0 0 1 1
Global developmental delay; Seizure; Microphthalmia; Reduced visual acuity 1 0 0 1
Global developmental delay; Short stature; Failure to thrive; Growth delay; Microcephaly; Metatarsus adductus; Lower limb asymmetry; Tibial torsion 0 0 1 1
Global developmental delay; Specific learning disability 1 0 0 1
Global developmental delay; Specific learning disability; Somatic sensory dysfunction; Attention deficit hyperactivity disorder 0 1 0 1
Global developmental delay; Tall stature; Macrocephaly; Generalized myoclonic seizure; Premature eruption of permanent teeth; Abnormal ventricular septum morphology; Ventricular septal defect 1 0 0 1
Global developmental delay; Tall stature; Macrocephaly; Hypotonia 1 0 0 1
Global developmental delay; Upslanted palpebral fissure; Atypical behavior; 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 1
Growth delay; Penile hypospadias; Abnormality of the genitourinary system; Hypoplasia of penis; Mild global developmental delay; Abnormal scrotal rugation 0 0 1 1
Hemangioma; Macrocephaly; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Hypotonia 0 1 0 1
Hirsutism; Abnormal facial shape; Partial duplication of thumb phalanx; Intellectual disability, severe; Clinodactyly 0 1 0 1
Hyperactivity; Short attention span; Delayed speech and language development; Specific learning disability; Impaired social interactions 0 0 1 1
Hypernasal speech; Abnormal pinna morphology; Macrocephaly; Underdeveloped nasal alae; Psychotic episodes; Large for gestational age; Sparse hair; Moderate global developmental delay; Abnormal circulating serine concentration; Hypotonia 1 0 0 1
Hypertelorism; Autism with high cognitive abilities 0 0 1 1
Hypertelorism; Blepharophimosis; Micrognathia; Upslanted palpebral fissure; Proximal placement of thumb; Macrocephaly; Dolichocephaly; Ventriculomegaly; Mild global developmental delay 1 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; Somatic sensory dysfunction; Bilateral conductive hearing impairment; Attention deficit hyperactivity disorder 1 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; Reduced eye contact; Athetosis; Uncontrolled eye movements; Prominent forehead; Hypotonia 0 0 1 1
Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep abnormality; Tall stature; Eczematoid dermatitis; 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; Somatic sensory dysfunction; Delayed fine motor development; Abnormal circulating serine family amino acid concentration; Bronchiolitis; Monocytopenia; Abnormal emotion; Encopresis; Asthma 0 0 1 1
Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizure; 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; Hypotonia 1 0 0 1
Hypertelorism; Kyphoscoliosis; Delayed speech and language development; Intellectual disability; Severe global developmental delay 0 0 1 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 1
Hypertelorism; Wide nose; Depressed nasal ridge 0 0 1 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Abnormality of the skeletal system; Anosmia; Intellectual disability 0 0 1 1
Hypoplastic left heart syndrome 0 1 0 1
Insulin resistance; Bipolar affective disorder; Increased body weight; Attention deficit hyperactivity disorder 0 0 1 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; Hypotonia 0 0 1 1
Irido-corneo-trabecular dysgenesis; Glaucoma; Seizure; Small face; Intellectual disability; Peripheral arterial stenosis; Severe global developmental delay; Unilateral microphthalmos 0 0 1 1
Isolated Pierre-Robin syndrome 0 0 1 1
Isolated Pierre-Robin syndrome; Hypotonia 0 0 1 1
Large congenital melanocytic nevus; Obesity; Atypical behavior; 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 1
Legg-Calve-Perthes disease; Sensorineural hearing loss disorder; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Telangiectasia of the skin 1 0 0 1
Male infertility 0 0 1 1
Male infertility; Oligospermia 0 0 1 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; Monocular strabismus; Varicocele; Attention deficit hyperactivity disorder; Oligospermia 0 0 1 1
Megalocornea; Scoliosis; Glaucoma of childhood; Ventricular septal defect 0 0 1 1
Microcephaly; Abnormal brain morphology 0 1 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 1
Micrognathia; Microtia 0 0 1 1
Motor delay; Autistic behavior; Focal impaired awareness seizure; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Specific learning disability; Facial hypotonia; Drooling; Intellectual disability, moderate; Dilation of Virchow-Robin spaces 0 0 1 1
Motor delay; Autistic behavior; Seizure; Delayed speech and language development; Mild global developmental delay; Encopresis 1 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 1
Motor delay; Expressive language delay; Hyperactivity; Seizure; Aggressive behavior; Receptive language delay; Somatic sensory dysfunction; Hypotonia 1 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; Increased overbite 1 0 0 1
Motor delay; Seizure; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Penile hypospadias; Recurrent otitis media; Retinal coloboma; Abnormal periventricular white matter morphology; Mild conductive hearing impairment; Severe global developmental delay 0 0 1 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 nerve disorder; Abnormal emotion 0 0 1 1
Motor delay; Sleep abnormality; 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 1
Motor delay; Spasticity; Microcephaly; Inability to walk 1 0 0 1
Multicystic kidney dysplasia; Single umbilical artery; Ventriculomegaly; Cerebellar dysplasia 0 0 1 1
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczematoid dermatitis; 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; Hypotonia 1 0 0 1
Obesity; Global developmental delay; Abnormal facial shape 0 1 0 1
Obesity; Global developmental delay; Atypical behavior; Abnormal facial shape; Skin rash; Pustule; Attention deficit hyperactivity disorder; Erythematous papule 0 0 1 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 1
Obesity; Global developmental delay; Seizure; 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; Increased overbite 1 0 0 1
Obesity; Motor delay; Autistic behavior; Atypical behavior; Delayed speech and language development; Compulsive behaviors 0 1 0 1
Obesity; Motor delay; Self-injurious behavior; Sleep abnormality; Depression; Overgrowth; Delayed speech and language development; Macrocephaly; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay 1 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; Bilateral tonic-clonic seizure; Generalized myoclonic seizure; Clumsiness; Developmental regression; Unilateral ptosis; High myopia; Interictal epileptiform activity; Camptodactyly of finger 0 0 1 1
Obesity; Tetralogy of Fallot; Short stature; Abnormal cardiovascular system morphology; Abnormal facial shape; Intellectual disability 0 0 1 1
Oligomenorrhea; Aplasia/Hypoplasia of the breasts 0 0 1 1
Orofacial cleft; Azoospermia; Testicular atrophy 1 0 0 1
Orofacial cleft; Feeding difficulties in infancy; Nasolacrimal duct obstruction 0 0 1 1
Overgrowth; Decreased testicular size; Pneumothorax; Attention deficit hyperactivity disorder 0 0 1 1
Partial agenesis of the corpus callosum; Ventriculomegaly 0 1 0 1
Patent foramen ovale; Abnormal facial shape; Patent ductus arteriosus 0 1 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; High myopia; Gastrostomy tube feeding in infancy; Cleft palate 1 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; Hypotonia 1 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 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 1
Pelvic kidney; Severe intrauterine growth retardation; Abnormal renal morphology 0 1 0 1
Plagiocephaly; Global developmental delay; Pyloric stenosis; Penile hypospadias; Vesicoureteral reflux; Megacolon; Ventricular septal defect 0 0 1 1
Plagiocephaly; Hearing impairment; Cognitive impairment 0 0 1 1
Polydactyly; Retrognathia; Abnormal mandible morphology 0 0 1 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 1
Primary amenorrhea 0 0 1 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 1
Pulmonic stenosis; Isolated Pierre-Robin syndrome; 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 1
Rieger anomaly; Global developmental delay 0 1 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 1
Seizure; Abnormal facial shape; Involuntary movements; Ventricular septal defect 0 0 1 1
Seizure; Absent speech; Blindness; Inability to walk; Severe global developmental delay 0 1 0 1
Seizure; Hyperthyroidism; Abnormal pinna morphology; Convex nasal ridge; Delayed speech and language development; Short philtrum; Dolichocephaly; Long face; Broad nasal tip; Strabismus; Severe global developmental delay; Hypotonia 1 0 0 1
Seizure; Self-injurious behavior; Partial agenesis of the corpus callosum; Interictal epileptiform activity; Severe global developmental delay; Delayed myelination 0 0 1 1
Seizure; Short stature; Failure to thrive; Compulsive behaviors; Oppositional defiant disorder; Attention deficit hyperactivity disorder 0 0 1 1
Seizure; Spasticity; Absent speech; Microcephaly; Inability to walk; Profound static encephalopathy 0 0 1 1
Seizure; Specific learning disability 0 0 1 1
Sensorineural hearing loss disorder; Seizure; Intellectual disability; Hypotonia 0 1 0 1
Sensorineural hearing loss disorder; Sleep abnormality; Chronic otitis media; Chronic diarrhea; Episodic abdominal pain; Abnormal dental morphology; Facial palsy; Cementoma; Ossifying fibroma of the jaw 0 0 1 1
Severe short stature 0 0 1 1
Short chin; Aplasia of the nose; Midface retrusion 0 0 1 1
Short stature 1 0 0 1
Short stature; Abnormality of prenatal development or birth 0 0 1 1
Short stature; Decreased body weight 0 0 1 1
Short stature; Delayed puberty 0 0 1 1
Short stature; Delayed skeletal maturation 0 0 1 1
Short stature; Growth delay; Abnormal facial shape; Microcephaly; Intellectual disability; Decreased body weight; Abnormal digit morphology; Heart murmur 0 0 1 1
Slurred speech 0 1 0 1
Small for gestational age 0 0 1 1
Speech apraxia 0 0 1 1
Telecanthus; Global developmental delay; Malar flattening; Specific learning disability 0 0 1 1
Thrombophilia 0 0 1 1
Tracheoesophageal fistula 1 0 0 1
Velopharyngeal insufficiency; Pulmonary hypoplasia; Epistaxis; Hypernasal speech; Speech apraxia; Recurrent otitis media; Autism with high cognitive abilities; Abnormality of the respiratory system; Bilateral lung agenesis; Asthma 0 0 1 1

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