Talkowski Laboratory, Center for Human Genetic Research (Massachusetts General Hospital)

General information

Talkowski Laboratory, Center for Human Genetic Research
Massachusetts General Hospital
185 Cambridge St
Boston
Massachusetts
United States - 02114
http://chgr.org/
Organization ID: 505929

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 248

Condition

NameSubmissionsLast Updated
1-2 finger syndactyly1Sep 23, 2016
2-3 toe cutaneous syndactyly1Sep 23, 2016
2-3 toe syndactyly1Sep 23, 2016
3-4 toe syndactyly1Sep 23, 2016
3-5 finger syndactyly1Sep 23, 2016
Abducens palsy1Sep 23, 2016
Abnormal aggressive, impulsive or violent behavior2Sep 23, 2016
Abnormal emotion/affect behavior6Sep 23, 2016
Abnormal eyebrow morphology1Sep 23, 2016
Abnormal facial shape41Sep 23, 2016
Abnormal hair pattern2Sep 23, 2016
Abnormal muscle tone2Sep 23, 2016
Abnormal number of hair whorls2Sep 23, 2016
Abnormal renal morphology2Sep 23, 2016
Abnormal scrotal rugation1Sep 23, 2016
Abnormal sex determination1Sep 23, 2016
Abnormal subcutaneous fat tissue distribution2Sep 23, 2016
Abnormal ventricular septum morphology1Sep 23, 2016
Abnormality of brain morphology1Sep 23, 2016
Abnormality of calvarial morphology1Sep 23, 2016
Abnormality of cardiovascular system morphology3Sep 23, 2016
Abnormality of dental morphology1Sep 23, 2016
Abnormality of digit1Sep 23, 2016
Abnormality of earlobe1Sep 23, 2016
Abnormality of eye movement1Sep 23, 2016
Abnormality of facial skeleton3Sep 23, 2016
Abnormality of limbs1Sep 23, 2016
Abnormality of mouth shape1Sep 23, 2016
Abnormality of movement1Sep 23, 2016
Abnormality of nasopharyngeal adenoids1Sep 23, 2016
Abnormality of nervous system physiology1Sep 23, 2016
Abnormality of prenatal development or birth4Sep 23, 2016
Abnormality of renal cortex morphology1Sep 23, 2016
Abnormality of serine family amino acid metabolism1Sep 23, 2016
Abnormality of serine metabolism1Sep 23, 2016
Abnormality of skin physiology1Sep 23, 2016
Abnormality of skin pigmentation1Sep 23, 2016
Abnormality of temperature regulation1Sep 23, 2016
Abnormality of the abdominal wall1Sep 23, 2016
Abnormality of the cerebral white matter1Sep 23, 2016
Abnormality of the costochondral junction1Sep 23, 2016
Abnormality of the dentition3Sep 23, 2016
Abnormality of the ear2Sep 23, 2016
Abnormality of the eye1Sep 23, 2016
Abnormality of the gastrointestinal tract2Sep 23, 2016
Abnormality of the genital system1Sep 23, 2016
Abnormality of the genitourinary system1Sep 23, 2016
Abnormality of the ileum1Sep 23, 2016
Abnormality of the inner ear1Sep 23, 2016
Abnormality of the larynx1Sep 23, 2016
Abnormality of the mandible1Sep 23, 2016
Abnormality of the musculature1Sep 23, 2016
Abnormality of the nail1Sep 23, 2016
Abnormality of the nervous system2Sep 23, 2016
Abnormality of the occipital bone1Sep 23, 2016
Abnormality of the outer ear1Sep 23, 2016
Abnormality of the periventricular white matter3Sep 23, 2016
Abnormality of the pinna4Sep 23, 2016
Abnormality of the respiratory system1Sep 23, 2016
Abnormality of the retinal vasculature1Sep 23, 2016
Abnormality of the skeletal system1Sep 23, 2016
Abnormality of the skull2Sep 23, 2016
Abnormality of the tongue1Sep 23, 2016
Abnormality of the tonsils1Sep 23, 2016
Abnormality of the urinary system1Sep 23, 2016
Abnormality of thyroid physiology1Sep 23, 2016
Abnormality of vision2Sep 23, 2016
Absence seizures1Sep 23, 2016
Absent septum pellucidum1Sep 23, 2016
Absent speech15Sep 23, 2016
Absent vas deferens1Sep 23, 2016
Acanthosis nigricans1Sep 23, 2016
Accelerated skeletal maturation2Sep 23, 2016
Achalasia1Sep 23, 2016
Acromesomelia2Sep 23, 2016
Acute pancreatitis1Sep 23, 2016
Aganglionic megacolon1Sep 23, 2016
Agenesis of corpus callosum1Sep 23, 2016
Agenesis of permanent teeth1Sep 23, 2016
Aggressive behavior6Sep 23, 2016
Agitation4Sep 23, 2016
Allergy1Sep 23, 2016
Ambiguous genitalia1Sep 23, 2016
Anemia1Sep 23, 2016
Ankle contracture1Sep 23, 2016
Anosmia1Sep 23, 2016
Anterior synechiae1Sep 23, 2016
Anteriorly placed anus1Sep 23, 2016
Anteverted ears1Sep 23, 2016
Anteverted nares6Sep 23, 2016
Anxiety4Sep 23, 2016
Aortic regurgitation1Sep 23, 2016
Aphasia1Sep 23, 2016
Aplasia of the nose1Sep 23, 2016
Aplasia of the ovary1Sep 23, 2016
Aplasia of the uterus1Sep 23, 2016
Aplasia/Hypoplasia of the breasts1Sep 23, 2016
Aplasia/Hypoplasia of the corpus callosum1Sep 23, 2016
Appendicular hypotonia1Sep 23, 2016
Aqueductal stenosis1Sep 23, 2016
Arachnodactyly2Sep 23, 2016
Arachnoid cyst1Sep 23, 2016
Arnold-Chiari malformation1Sep 23, 2016
Arrhythmia1Sep 23, 2016
Aspiration2Sep 23, 2016
Asthma10Sep 23, 2016
Asymmetry of the mandible1Sep 23, 2016
Athetosis1Sep 23, 2016
Atresia of the external auditory canal1Sep 23, 2016
Atrial septal defect7Sep 23, 2016
Attached earlobe1Sep 23, 2016
Attention deficit hyperactivity disorder18Sep 23, 2016
Autism with high cognitive abilities4Sep 23, 2016
Autistic behavior36Sep 23, 2016
Autoimmune hypoparathyroidism1Sep 23, 2016
Azoospermia2Sep 23, 2016
Behavioral abnormality17Sep 23, 2016
Bicornuate uterus1Sep 23, 2016
Bicuspid aortic valve1Sep 23, 2016
Bilateral conductive hearing impairment2Sep 23, 2016
Bilateral cryptorchidism1Sep 23, 2016
Bilateral lung agenesis1Sep 23, 2016
Bilateral sensorineural hearing impairment1Sep 23, 2016
Bilateral triphalangeal thumbs1Sep 23, 2016
Bipolar affective disorder1Sep 23, 2016
Bladder exstrophy1Sep 23, 2016
Blepharophimosis1Sep 23, 2016
Blindness1Sep 23, 2016
Blue nevus1Sep 23, 2016
Brachycephaly5Sep 23, 2016
Brisk reflexes1Sep 23, 2016
Broad face1Sep 23, 2016
Broad foot1Sep 23, 2016
Broad forehead2Sep 23, 2016
Broad hallux1Sep 23, 2016
Broad hallux phalanx1Sep 23, 2016
Broad nasal tip1Sep 23, 2016
Broad thumb1Sep 23, 2016
Broad toe1Sep 23, 2016
Bronchiolitis2Sep 23, 2016
Bronchogenic cyst1Sep 23, 2016
Bruising susceptibility2Sep 23, 2016
Bulbous tips of toes1Sep 23, 2016
Cafe-au-lait spot4Sep 23, 2016
Calcaneovalgus deformity1Sep 23, 2016
Camptodactyly1Sep 23, 2016
Camptodactyly of finger2Sep 23, 2016
Capillary hemangiomas1Sep 23, 2016
Carious teeth2Sep 23, 2016
Cataract1Sep 23, 2016
Cementoma1Sep 23, 2016
Cerebellar ataxia2Sep 23, 2016
Cerebellar dysplasia1Sep 23, 2016
Cerebral calcification1Sep 23, 2016
Cerebral ischemia1Sep 23, 2016
Cerebral palsy2Sep 23, 2016
Cerebral white matter hypoplasia1Sep 23, 2016
Chin with horizontal crease1Sep 23, 2016
Choreoathetosis1Sep 23, 2016
Chronic constipation3Sep 23, 2016
Chronic diarrhea2Sep 23, 2016
Chronic otitis media1Sep 23, 2016
Chronic sinusitis1Sep 23, 2016
Cleft of soft palate2Sep 23, 2016
Cleft palate2Sep 23, 2016
Cleft upper lip2Sep 23, 2016
Clinodactyly3Sep 23, 2016
Clinodactyly of the 3rd toe1Sep 23, 2016
Clinodactyly of the 5th finger6Sep 23, 2016
Clinodactyly of the 5th toe2Sep 23, 2016
Clumsiness1Sep 23, 2016
Coarctation of aorta2Sep 23, 2016
Coarse facial features1Sep 23, 2016
Coarse hair2Sep 23, 2016
Cognitive impairment1Sep 23, 2016
Coloboma of optic disc1Sep 23, 2016
Colorectal polyposis1Sep 23, 2016
Complete duplication of thumb phalanx1Sep 23, 2016
Concave nasal ridge1Sep 23, 2016
Conductive hearing impairment2Sep 23, 2016
Congenital cataract2Sep 23, 2016
Congenital cerebellar hypoplasia1Sep 23, 2016
Congenital diaphragmatic hernia3Sep 23, 2016
Congenital ectopic pupil1Sep 23, 2016
Congenital finger flexion contractures1Sep 23, 2016
Congenital giant melanocytic nevus1Sep 23, 2016
Congenital glaucoma1Sep 23, 2016
Congenital sensorineural hearing impairment1Sep 23, 2016
Constipation4Sep 23, 2016
Convex nasal ridge1Sep 23, 2016
Corneal opacity1Sep 23, 2016
Cortical dysplasia1Sep 23, 2016
Coxa plana1Sep 23, 2016
Craniosynostosis1Sep 23, 2016
Cryptorchidism6Sep 23, 2016
Cutis laxa1Sep 23, 2016
Cutis marmorata1Sep 23, 2016
Cyanosis1Sep 23, 2016
Cystic hygroma1Sep 23, 2016
Decreased activity of mitochondrial complex III1Sep 23, 2016
Decreased body weight4Sep 23, 2016
Decreased fetal movement1Sep 23, 2016
Decreased testicular size2Sep 23, 2016
Deeply set eye5Sep 23, 2016
Delayed closure of the anterior fontanelle1Sep 23, 2016
Delayed eruption of primary teeth1Sep 23, 2016
Delayed fine motor development6Sep 23, 2016
Delayed gross motor development5Sep 23, 2016
Delayed myelination3Sep 23, 2016
Delayed puberty1Sep 23, 2016
Delayed skeletal maturation2Sep 23, 2016
Delayed speech and language development50Sep 23, 2016
Depressed nasal bridge7Sep 23, 2016
Depressed nasal ridge1Sep 23, 2016
Depressivity2Sep 23, 2016
Developmental regression2Sep 23, 2016
Diastema1Sep 23, 2016
Diffuse white matter abnormalities1Sep 23, 2016
Dilatation of the sinus of Valsalva1Sep 23, 2016
Dolichocephaly5Sep 23, 2016
Double aortic arch1Sep 23, 2016
Double inlet left ventricle1Sep 23, 2016
Downslanted palpebral fissures9Sep 23, 2016
Downturned corners of mouth4Sep 23, 2016
Drooling4Sep 23, 2016
Dry skin1Sep 23, 2016
Duane anomaly1Sep 23, 2016
Dysarthria2Sep 23, 2016
Dysautonomia1Sep 23, 2016
Dyscalculia2Sep 23, 2016
Dyskinesia1Sep 23, 2016
Dysphasia1Sep 23, 2016
Dysplastic corpus callosum1Sep 23, 2016
EEG abnormality4Sep 23, 2016
EEG with abnormally slow frequencies1Sep 23, 2016
EEG with temporal focal spikes2Sep 23, 2016
Ebstein anomaly of the tricuspid valve1Sep 23, 2016
Ectopic pancreatic tissue1Sep 23, 2016
Eczema5Sep 23, 2016
Emotional lability2Sep 23, 2016
Encephalopathy2Sep 23, 2016
Encopresis2Sep 23, 2016
Entropion1Sep 23, 2016
Enuresis5Sep 23, 2016
Epiblepharon of lower lid1Sep 23, 2016
Epicanthus21Sep 23, 2016
Epileptic spasms1Sep 23, 2016
Epileptiform EEG discharges2Sep 23, 2016
Episodic abdominal pain2Sep 23, 2016
Epistaxis1Sep 23, 2016
Erythematous papule1Sep 23, 2016
Esotropia3Sep 23, 2016
Exotropia3Sep 23, 2016
Expressive language delay10Sep 23, 2016
Facial asymmetry6Sep 23, 2016
Facial hyperostosis1Sep 23, 2016
Facial hypotonia1Sep 23, 2016
Facial palsy1Sep 23, 2016
Failure to thrive17Sep 23, 2016
Febrile seizures2Sep 23, 2016
Feeding difficulties14Sep 23, 2016
Feeding difficulties in infancy2Sep 23, 2016
Few cafe-au-lait spots1Sep 23, 2016
Finger clinodactyly1Sep 23, 2016
Finger syndactyly2Sep 23, 2016
Flat midface1Sep 23, 2016
Focal seizures1Sep 23, 2016
Focal seizures with impairment of consciousness or awareness2Sep 23, 2016
Frequent falls1Sep 23, 2016
Frontal bossing3Sep 23, 2016
Frontal upsweep of hair2Sep 23, 2016
Fused teeth1Sep 23, 2016
Gait imbalance1Sep 23, 2016
Gastroesophageal reflux4Sep 23, 2016
Gastrostomy tube feeding in infancy4Sep 23, 2016
Generalized hypotonia1Sep 23, 2016
Generalized myoclonic seizures3Sep 23, 2016
Generalized neonatal hypotonia2Sep 23, 2016
Generalized opacification of the cornea1Sep 23, 2016
Generalized seizures1Sep 23, 2016
Generalized tonic-clonic seizures1Sep 23, 2016
Genu valgum1Sep 23, 2016
Gingival overgrowth1Sep 23, 2016
Glaucoma1Sep 23, 2016
Global brain atrophy1Sep 23, 2016
Global developmental delay94Sep 23, 2016
Growth delay13Sep 23, 2016
Growth hormone deficiency1Sep 23, 2016
Gynecomastia2Sep 23, 2016
Hallux valgus2Sep 23, 2016
Hearing abnormality1Sep 23, 2016
Hearing impairment4Sep 23, 2016
Heart murmur5Sep 23, 2016
Hemangioma4Sep 23, 2016
Hemihypertrophy1Sep 23, 2016
Hemiparesis1Sep 23, 2016
High forehead4Sep 23, 2016
High palate6Sep 23, 2016
High, narrow palate2Sep 23, 2016
Hip dislocation1Sep 23, 2016
Hirsutism4Sep 23, 2016
Horseshoe kidney1Sep 23, 2016
Hydrocele testis1Sep 23, 2016
Hydrocephalus2Sep 23, 2016
Hydronephrosis1Sep 23, 2016
Hyperactive patellar reflex1Sep 23, 2016
Hyperactivity3Sep 23, 2016
Hypercoagulability1Sep 23, 2016
Hyperconvex toenail1Sep 23, 2016
Hyperhydroxyprolinemia1Sep 23, 2016
Hypermetropia1Sep 23, 2016
Hyperpigmentation of the skin3Sep 23, 2016
Hypertelorism12Sep 23, 2016
Hyperthyroidism1Sep 23, 2016
Hypertonia3Sep 23, 2016
Hypertriglyceridemia1Sep 23, 2016
Hypertyrosinemia1Sep 23, 2016
Hypoglycemia1Sep 23, 2016
Hypogonadotropic hypogonadism 7 with or without anosmia1Sep 23, 2016
Hypopigmentation of the skin1Sep 23, 2016
Hypopigmented skin patches1Sep 23, 2016
Hypoplasia of deltoid muscle1Sep 23, 2016
Hypoplasia of penis1Sep 23, 2016
Hypoplasia of the corpus callosum2Sep 23, 2016
Hypoplasia of the frontal lobes3Sep 23, 2016
Hypoplasia of the premaxilla2Sep 23, 2016
Hypoplasia of the uterus1Sep 23, 2016
Hypoplastic aortic arch1Sep 23, 2016
Hypoplastic helices1Sep 23, 2016
Hypoplastic labia majora1Sep 23, 2016
Hypoplastic left heart syndrome1Sep 23, 2016
Hypoplastic nasal bridge1Sep 23, 2016
Hypoplastic nipples1Sep 23, 2016
Hypoplastic scapulae1Sep 23, 2016
Hypoplastic toenails2Sep 23, 2016
Hypospadias, penile7Sep 23, 2016
Impaired pain sensation1Sep 23, 2016
Impaired social interactions6Sep 23, 2016
Impaired visuospatial constructive cognition2Sep 23, 2016
Inability to walk7Sep 23, 2016
Incomplete partition of the cochlea type II2Sep 23, 2016
Increased blood urea nitrogen1Sep 23, 2016
Increased body weight1Sep 23, 2016
Increased intracranial pressure1Sep 23, 2016
Increased mean corpuscular volume1Sep 23, 2016
Increased red blood cell mass1Sep 23, 2016
Infantile axial hypotonia1Sep 23, 2016
Infantile muscular hypotonia1Sep 23, 2016
Infantile spasms2Sep 23, 2016
Inflammatory abnormality of the skin1Sep 23, 2016
Inflexible adherence to routines or rituals1Sep 23, 2016
Inguinal hernia5Sep 23, 2016
Insulin resistance1Sep 23, 2016
Intellectual disability14Sep 23, 2016
Intellectual disability, mild8Sep 23, 2016
Intellectual disability, moderate1Sep 23, 2016
Intellectual disability, severe7Sep 23, 2016
Intention tremor1Sep 23, 2016
Intrauterine growth retardation1Sep 23, 2016
Inversion of nipple2Sep 23, 2016
Involuntary movements1Sep 23, 2016
Irido-corneo-trabecular dysgenesis1Sep 23, 2016
Joint hypermobility6Sep 23, 2016
Joint laxity1Sep 23, 2016
Juvenile rheumatoid arthritis1Sep 23, 2016
Keloid formation1Sep 23, 2016
Kyphoscoliosis1Sep 23, 2016
Labial hypoplasia1Sep 23, 2016
Lambdoidal craniosynostosis1Sep 23, 2016
Large earlobe1Sep 23, 2016
Large for gestational age2Sep 23, 2016
Large hands1Sep 23, 2016
Left-to-right shunt1Sep 23, 2016
Ligamentous laxity1Sep 23, 2016
Limb joint contracture1Sep 23, 2016
Limited shoulder movement1Sep 23, 2016
Lipedema1Sep 23, 2016
Long ear1Sep 23, 2016
Long eyelashes3Sep 23, 2016
Long face2Sep 23, 2016
Long foot1Sep 23, 2016
Long palpebral fissure1Sep 23, 2016
Long philtrum2Sep 23, 2016
Long upper lip1Sep 23, 2016
Low-set ears5Sep 23, 2016
Low-set, posteriorly rotated ears1Sep 23, 2016
Lower limb asymmetry2Sep 23, 2016
Lower limb hypertonia2Sep 23, 2016
Lower limb muscle weakness1Sep 23, 2016
Lower limb spasticity1Sep 23, 2016
Lumbar hypertrichosis1Sep 23, 2016
Macrocephalus14Sep 23, 2016
Macroorchidism1Sep 23, 2016
Macrotia5Sep 23, 2016
Macular hypopigmented whorls, streaks, and patches1Sep 23, 2016
Malar flattening2Sep 23, 2016
Male infertility3Sep 23, 2016
Mandibular prognathia2Sep 23, 2016
Medial flaring of the eyebrow1Sep 23, 2016
Megalocornea1Sep 23, 2016
Metatarsus adductus2Sep 23, 2016
Metatarsus valgus1Sep 23, 2016
Metopic synostosis1Sep 23, 2016
Microcephaly20Sep 23, 2016
Microdontia1Sep 23, 2016
Micrognathia10Sep 23, 2016
Micropenis2Sep 23, 2016
Microphthalmia1Sep 23, 2016
Microretrognathia2Sep 23, 2016
Microtia5Sep 23, 2016
Midface retrusion4Sep 23, 2016
Mild conductive hearing impairment3Sep 23, 2016
Mild global developmental delay14Sep 23, 2016
Missing ribs1Sep 23, 2016
Mitral regurgitation2Sep 23, 2016
Mixed hearing impairment1Sep 23, 2016
Moderate global developmental delay3Sep 23, 2016
Monocytopenia1Sep 23, 2016
Morphological abnormality of the semicircular canal1Sep 23, 2016
Motor delay28Sep 23, 2016
Mottled pigmentation1Sep 23, 2016
Multicystic kidney dysplasia1Sep 23, 2016
Multiple cafe-au-lait spots1Sep 23, 2016
Multiple palmar creases1Sep 23, 2016
Muscular dystrophy1Sep 23, 2016
Muscular hypotonia36Sep 23, 2016
Muscular hypotonia of the trunk3Sep 23, 2016
Myoclonus1Sep 23, 2016
Myopia3Sep 23, 2016
Narrow face1Sep 23, 2016
Narrow mouth2Sep 23, 2016
Narrow naris1Sep 23, 2016
Narrow nasal base1Sep 23, 2016
Nasal speech2Sep 23, 2016
Nasolacrimal duct obstruction1Sep 23, 2016
Neonatal hypotonia3Sep 23, 2016
Nephrolithiasis1Sep 23, 2016
Neurological speech impairment1Sep 23, 2016
Neutropenia2Sep 23, 2016
Numerous nevi1Sep 23, 2016
Nystagmus3Sep 23, 2016
Obesity10Sep 23, 2016
Obsessive-compulsive behavior3Sep 23, 2016
Obsessive-compulsive trait1Sep 23, 2016
Olfactory lobe agenesis1Sep 23, 2016
Oligohydramnios1Sep 23, 2016
Oligomenorrhea1Sep 23, 2016
Oligospermia2Sep 23, 2016
Olivopontocerebellar degeneration1Sep 23, 2016
Open mouth3Sep 23, 2016
Oppositional defiant disorder3Sep 23, 2016
Optic nerve hypoplasia2Sep 23, 2016
Oral cleft2Sep 23, 2016
Oral motor hypotonia2Sep 23, 2016
Ossifying fibroma of the jaw1Sep 23, 2016
Osteoporosis1Sep 23, 2016
Ovarian cyst1Sep 23, 2016
Overbite2Sep 23, 2016
Overfolded helix1Sep 23, 2016
Overgrowth3Sep 23, 2016
Overlapping toe3Sep 23, 2016
Panhypopituitarism1Sep 23, 2016
Partial agenesis of the corpus callosum3Sep 23, 2016
Partial duplication of thumb phalanx1Sep 23, 2016
Patchy alopecia1Sep 23, 2016
Patent ductus arteriosus5Sep 23, 2016
Patent foramen ovale1Sep 23, 2016
Pectus carinatum1Sep 23, 2016
Pectus excavatum6Sep 23, 2016
Pelvic kidney1Sep 23, 2016
Peripheral arterial stenosis1Sep 23, 2016
Peripheral neuropathy1Sep 23, 2016
Perivascular spaces2Sep 23, 2016
Persistent fetal circulation1Sep 23, 2016
Persistent open anterior fontanelle2Sep 23, 2016
Pes cavus1Sep 23, 2016
Pes planus2Sep 23, 2016
Piebaldism1Sep 23, 2016
Plagiocephaly4Sep 23, 2016
Pneumonia1Sep 23, 2016
Pneumothorax1Sep 23, 2016
Pointed chin1Sep 23, 2016
Polydactyly1Sep 23, 2016
Polyhydramnios1Sep 23, 2016
Polymicrogyria1Sep 23, 2016
Poor coordination1Sep 23, 2016
Poor eye contact2Sep 23, 2016
Poor fine motor coordination2Sep 23, 2016
Poor head control1Sep 23, 2016
Poor motor coordination1Sep 23, 2016
Poor speech2Sep 23, 2016
Poor suck2Sep 23, 2016
Posteriorly placed tongue1Sep 23, 2016
Posteriorly rotated ears4Sep 23, 2016
Preauricular pit1Sep 23, 2016
Preaxial hand polydactyly1Sep 23, 2016
Premature birth1Sep 23, 2016
Premature eruption of permanent teeth1Sep 23, 2016
Premature thelarche1Sep 23, 2016
Primary amenorrhea2Sep 23, 2016
Profound global developmental delay1Sep 23, 2016
Profound sensorineural hearing impairment1Sep 23, 2016
Profound static encephalopathy1Sep 23, 2016
Prominent digit pad1Sep 23, 2016
Prominent forehead9Sep 23, 2016
Prominent metopic ridge1Sep 23, 2016
Prominent nasal bridge4Sep 23, 2016
Prominent nose3Sep 23, 2016
Prominent occiput1Sep 23, 2016
Proportionate shortening of all digits1Sep 23, 2016
Protruding ear2Sep 23, 2016
Protruding tongue2Sep 23, 2016
Proximal muscle weakness in lower limbs1Sep 23, 2016
Proximal placement of thumb1Sep 23, 2016
Proximal tibial hypoplasia1Sep 23, 2016
Psychosis1Sep 23, 2016
Psychotic episodes2Sep 23, 2016
Ptosis1Sep 23, 2016
Pulmonary artery stenosis1Sep 23, 2016
Pulmonary hypoplasia2Sep 23, 2016
Pulmonary lymphangiectasia1Sep 23, 2016
Pulmonic stenosis3Sep 23, 2016
Pustule1Sep 23, 2016
Pyloric stenosis1Sep 23, 2016
Receptive language delay6Sep 23, 2016
Recurrent bronchiolitis1Sep 23, 2016
Recurrent bronchopulmonary infections1Sep 23, 2016
Recurrent fractures3Sep 23, 2016
Recurrent hand flapping1Sep 23, 2016
Recurrent otitis media5Sep 23, 2016
Recurrent upper respiratory tract infections1Sep 23, 2016
Reduced bone mineral density1Sep 23, 2016
Reduced tendon reflexes1Sep 23, 2016
Reduced visual acuity3Sep 23, 2016
Relative macrocephaly1Sep 23, 2016
Respiratory failure requiring assisted ventilation1Sep 23, 2016
Retinal coloboma1Sep 23, 2016
Retinal dysplasia1Sep 23, 2016
Retrognathia3Sep 23, 2016
Rieger syndrome1Sep 23, 2016
Robin sequence5Sep 23, 2016
Rocker bottom foot1Sep 23, 2016
Round face1Sep 23, 2016
Sacral dimple1Sep 23, 2016
Sacral hypertrichosis1Sep 23, 2016
Sandal gap1Sep 23, 2016
Sclerocornea1Sep 23, 2016
Scoliosis9Sep 23, 2016
Secundum atrial septal defect2Sep 23, 2016
Seizures36Sep 23, 2016
Self-biting1Sep 23, 2016
Self-injurious behavior4Sep 23, 2016
Sensorineural hearing loss4Sep 23, 2016
Sensory impairment5Sep 23, 2016
Setting-sun eye phenomenon1Sep 23, 2016
Severe Myopia2Sep 23, 2016
Severe failure to thrive1Sep 23, 2016
Severe global developmental delay14Sep 23, 2016
Severe intrauterine growth retardation1Sep 23, 2016
Severe sensorineural hearing impairment1Sep 23, 2016
Severe short stature1Sep 23, 2016
Shawl scrotum1Sep 23, 2016
Short attention span2Sep 23, 2016
Short chin3Sep 23, 2016
Short columella1Sep 23, 2016
Short lingual frenulum1Sep 23, 2016
Short metatarsal2Sep 23, 2016
Short neck2Sep 23, 2016
Short nose5Sep 23, 2016
Short palpebral fissure4Sep 23, 2016
Short phalanx of finger2Sep 23, 2016
Short philtrum7Sep 23, 2016
Short stature18Sep 23, 2016
Short toe2Sep 23, 2016
Shortening of all distal phalanges of the fingers1Sep 23, 2016
Single transverse palmar crease5Sep 23, 2016
Single umbilical artery1Sep 23, 2016
Skin rash1Sep 23, 2016
Sleep apnea1Sep 23, 2016
Sleep disturbance5Sep 23, 2016
Slurred speech1Sep 23, 2016
Small face1Sep 23, 2016
Small for gestational age2Sep 23, 2016
Small scrotum1Sep 23, 2016
Small thenar eminence1Sep 23, 2016
Smooth philtrum2Sep 23, 2016
Sparse and thin eyebrow2Sep 23, 2016
Sparse hair1Sep 23, 2016
Spastic diplegia1Sep 23, 2016
Spasticity3Sep 23, 2016
Specific learning disability18Sep 23, 2016
Speech apraxia4Sep 23, 2016
Speech articulation difficulties2Sep 23, 2016
Spina bifida occulta1Sep 23, 2016
Split foot1Sep 23, 2016
Square face1Sep 23, 2016
Stenosis of the external auditory canal1Sep 23, 2016
Stereotypical hand wringing1Sep 23, 2016
Stereotypy3Sep 23, 2016
Strabismus9Sep 23, 2016
Supraventricular tachycardia1Sep 23, 2016
Swan neck-like deformities of the fingers1Sep 23, 2016
Sydney crease1Sep 23, 2016
Syndactyly1Sep 23, 2016
Synophrys3Sep 23, 2016
Tachypnea1Sep 23, 2016
Talipes1Sep 23, 2016
Talipes equinovarus2Sep 23, 2016
Tall stature5Sep 23, 2016
Tapered finger5Sep 23, 2016
Telangiectasia of the skin1Sep 23, 2016
Telecanthus3Sep 23, 2016
Testicular atrophy1Sep 23, 2016
Tetralogy of Fallot1Sep 23, 2016
Tetralogy of Fallot with absent pulmonary valve1Sep 23, 2016
Tetraparesis1Sep 23, 2016
Thick vermilion border2Sep 23, 2016
Thickened helices1Sep 23, 2016
Thickened nuchal skin fold1Sep 23, 2016
Thickened skin2Sep 23, 2016
Thin upper lip vermilion10Sep 23, 2016
Thin vermilion border2Sep 23, 2016
Thoracic hypoplasia1Sep 23, 2016
Thrombocytopenia1Sep 23, 2016
Tibial torsion1Sep 23, 2016
Tics2Sep 23, 2016
Toe clinodactyly1Sep 23, 2016
Toe walking1Sep 23, 2016
Torticollis1Sep 23, 2016
Tracheoesophageal fistula2Sep 23, 2016
Tracheomalacia2Sep 23, 2016
Transposition of the great arteries1Sep 23, 2016
Triangular face3Sep 23, 2016
Tricuspid regurgitation2Sep 23, 2016
Triphalangeal thumb1Sep 23, 2016
Type B brachydactyly1Sep 23, 2016
Type I diabetes mellitus1Sep 23, 2016
Ulnar deviation of the hand1Sep 23, 2016
Umbilical hernia2Sep 23, 2016
Uncontrolled eye movements1Sep 23, 2016
Underdeveloped nasal alae1Sep 23, 2016
Unilateral microphthalmos1Sep 23, 2016
Unilateral ptosis1Sep 23, 2016
Unilateral renal agenesis1Sep 23, 2016
Unilateral strabismus1Sep 23, 2016
Unsteady gait2Sep 23, 2016
Upper limb hypertonia1Sep 23, 2016
Upper limb spasticity1Sep 23, 2016
Upslanted palpebral fissure6Sep 23, 2016
Upturned corners of mouth1Sep 23, 2016
Varicocele1Sep 23, 2016
Vasovagal syncope1Sep 23, 2016
Velopharyngeal insufficiency1Sep 23, 2016
Ventricular septal defect7Sep 23, 2016
Ventriculomegaly4Sep 23, 2016
Vesicoureteral reflux2Sep 23, 2016
Visual impairment3Sep 23, 2016
Vomiting1Sep 23, 2016
Weight loss1Sep 23, 2016
White forelock1Sep 23, 2016
Wide intermamillary distance1Sep 23, 2016
Wide mouth2Sep 23, 2016
Wide nasal base1Sep 23, 2016
Wide nasal bridge3Sep 23, 2016
Wide nose2Sep 23, 2016
Widened subarachnoid space2Sep 23, 2016
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