| 1-2 finger syndactyly | 1 | Sep 23, 2016 |
| 2-3 toe cutaneous syndactyly | 1 | Sep 23, 2016 |
| 2-3 toe syndactyly | 1 | Sep 23, 2016 |
| 3-4 toe syndactyly | 1 | Sep 23, 2016 |
| 3-5 finger syndactyly | 1 | Sep 23, 2016 |
| Abducens nerve disorder | 1 | Sep 23, 2016 |
| Abnormal aggressive, impulsive or violent behavior | 2 | Sep 23, 2016 |
| Abnormal autonomic nervous system physiology | 1 | Sep 23, 2016 |
| Abnormal brain morphology | 1 | Sep 23, 2016 |
| Abnormal calvaria morphology | 1 | Sep 23, 2016 |
| Abnormal cardiovascular system morphology | 3 | Sep 23, 2016 |
| Abnormal cerebral white matter morphology | 1 | Sep 23, 2016 |
| Abnormal circulating serine concentration | 1 | Sep 23, 2016 |
| Abnormal circulating serine family amino acid concentration | 1 | Sep 23, 2016 |
| Abnormal dental morphology | 1 | Sep 23, 2016 |
| Abnormal digit morphology | 1 | Sep 23, 2016 |
| Abnormal earlobe morphology | 1 | Sep 23, 2016 |
| Abnormal emotion | 6 | Sep 23, 2016 |
| Abnormal eyebrow morphology | 1 | Sep 23, 2016 |
| Abnormal facial shape | 41 | Sep 23, 2016 |
| Abnormal facial skeleton morphology | 3 | Sep 23, 2016 |
| Abnormal hair pattern | 2 | Sep 23, 2016 |
| Abnormal ileum morphology | 1 | Sep 23, 2016 |
| Abnormal mandible morphology | 1 | Sep 23, 2016 |
| Abnormal muscle tone | 2 | Sep 23, 2016 |
| Abnormal nasopharyngeal adenoid morphology | 1 | Sep 23, 2016 |
| Abnormal nervous system physiology | 1 | Sep 23, 2016 |
| Abnormal number of hair whorls | 2 | Sep 23, 2016 |
| Abnormal occipital bone morphology | 1 | Sep 23, 2016 |
| Abnormal periventricular white matter morphology | 3 | Sep 23, 2016 |
| Abnormal pinna morphology | 4 | Sep 23, 2016 |
| Abnormal renal cortex morphology | 1 | Sep 23, 2016 |
| Abnormal renal morphology | 2 | Sep 23, 2016 |
| Abnormal retinal vascular morphology | 1 | Sep 23, 2016 |
| Abnormal scrotal rugation | 1 | Sep 23, 2016 |
| Abnormal semicircular canal morphology | 1 | Sep 23, 2016 |
| Abnormal sex determination | 1 | Sep 23, 2016 |
| Abnormal skull morphology | 2 | Sep 23, 2016 |
| Abnormal subcutaneous fat tissue distribution | 2 | Sep 23, 2016 |
| Abnormal ventricular septum morphology | 1 | Sep 23, 2016 |
| Abnormality of eye movement | 1 | Sep 23, 2016 |
| Abnormality of limbs | 1 | Sep 23, 2016 |
| Abnormality of mouth shape | 1 | Sep 23, 2016 |
| Abnormality of prenatal development or birth | 4 | Sep 23, 2016 |
| Abnormality of skin physiology | 1 | Sep 23, 2016 |
| Abnormality of skin pigmentation | 1 | Sep 23, 2016 |
| Abnormality of speech or vocalization | 1 | Sep 23, 2016 |
| Abnormality of temperature regulation | 1 | Sep 23, 2016 |
| Abnormality of the abdominal wall | 1 | Sep 23, 2016 |
| Abnormality of the costochondral junction | 1 | Sep 23, 2016 |
| Abnormality of the dentition | 3 | Sep 23, 2016 |
| Abnormality of the eye | 1 | Sep 23, 2016 |
| Abnormality of the gastrointestinal tract | 2 | Sep 23, 2016 |
| Abnormality of the genital system | 1 | Sep 23, 2016 |
| Abnormality of the genitourinary system | 1 | Sep 23, 2016 |
| Abnormality of the inner ear | 1 | Sep 23, 2016 |
| Abnormality of the larynx | 1 | Sep 23, 2016 |
| Abnormality of the musculature | 1 | Sep 23, 2016 |
| Abnormality of the nail | 1 | Sep 23, 2016 |
| Abnormality of the nervous system | 2 | Sep 23, 2016 |
| Abnormality of the outer ear | 1 | Sep 23, 2016 |
| Abnormality of the respiratory system | 1 | Sep 23, 2016 |
| Abnormality of the skeletal system | 1 | Sep 23, 2016 |
| Abnormality of the tongue | 1 | Sep 23, 2016 |
| Abnormality of the tonsils | 1 | Sep 23, 2016 |
| Abnormality of the urinary system | 1 | Sep 23, 2016 |
| Abnormality of thyroid physiology | 1 | Sep 23, 2016 |
| Abnormality of vision | 2 | Sep 23, 2016 |
| Absent septum pellucidum | 1 | Sep 23, 2016 |
| Absent speech | 15 | Sep 23, 2016 |
| Absent vas deferens | 1 | Sep 23, 2016 |
| Acanthosis nigricans | 1 | Sep 23, 2016 |
| Accelerated skeletal maturation | 2 | Sep 23, 2016 |
| Achalasia | 1 | Sep 23, 2016 |
| Acromesomelia | 2 | Sep 23, 2016 |
| Acute pancreatitis | 1 | Sep 23, 2016 |
| Agenesis of permanent teeth | 1 | Sep 23, 2016 |
| Aggressive behavior | 6 | Sep 23, 2016 |
| Agitation | 4 | Sep 23, 2016 |
| Allergy | 1 | Sep 23, 2016 |
| Alopecia areata | 1 | Sep 23, 2016 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Sep 23, 2016 |
| Ambiguous genitalia | 1 | Sep 23, 2016 |
| Anemia | 1 | Sep 23, 2016 |
| Ankle flexion contracture | 1 | Sep 23, 2016 |
| Anosmia | 1 | Sep 23, 2016 |
| Anterior synechiae of the anterior chamber | 1 | Sep 23, 2016 |
| Anteriorly placed anus | 1 | Sep 23, 2016 |
| Anteverted ears | 1 | Sep 23, 2016 |
| Anteverted nares | 6 | Sep 23, 2016 |
| Anxiety | 4 | Sep 23, 2016 |
| Aortic regurgitation | 1 | Sep 23, 2016 |
| Aphasia | 1 | Sep 23, 2016 |
| Aplasia of the nose | 1 | Sep 23, 2016 |
| Aplasia of the ovary | 1 | Sep 23, 2016 |
| Aplasia of the uterus | 1 | Sep 23, 2016 |
| Aplasia/Hypoplasia of the breasts | 1 | Sep 23, 2016 |
| Aplasia/Hypoplasia of the corpus callosum | 1 | Sep 23, 2016 |
| Appendicular hypotonia | 1 | Sep 23, 2016 |
| Aqueductal stenosis | 1 | Sep 23, 2016 |
| Arachnodactyly | 2 | Sep 23, 2016 |
| Arachnoid cyst | 1 | Sep 23, 2016 |
| Aspiration | 2 | Sep 23, 2016 |
| Asthma | 9 | Sep 23, 2016 |
| Asymmetry of the mandible | 1 | Sep 23, 2016 |
| Athetosis | 1 | Sep 23, 2016 |
| Atresia of the external auditory canal | 1 | Sep 23, 2016 |
| Atrial septal defect | 7 | Sep 23, 2016 |
| Atrial septal defect, ostium secundum type | 2 | Sep 23, 2016 |
| Attached earlobe | 1 | Sep 23, 2016 |
| Attention deficit hyperactivity disorder | 18 | Sep 23, 2016 |
| Atypical behavior | 17 | Sep 23, 2016 |
| Autism with high cognitive abilities | 4 | Sep 23, 2016 |
| Autistic behavior | 36 | Sep 23, 2016 |
| Autoimmune hypoparathyroidism | 1 | Sep 23, 2016 |
| Axial hypotonia | 3 | Sep 23, 2016 |
| Azoospermia | 2 | Sep 23, 2016 |
| Bicornuate uterus | 1 | Sep 23, 2016 |
| Bicuspid aortic valve | 1 | Sep 23, 2016 |
| Bilateral conductive hearing impairment | 2 | Sep 23, 2016 |
| Bilateral cryptorchidism | 1 | Sep 23, 2016 |
| Bilateral lung agenesis | 1 | Sep 23, 2016 |
| Bilateral sensorineural hearing impairment | 1 | Sep 23, 2016 |
| Bilateral tonic-clonic seizure | 1 | Sep 23, 2016 |
| Bilateral triphalangeal thumbs | 1 | Sep 23, 2016 |
| Bipolar affective disorder | 1 | Sep 23, 2016 |
| Bladder exstrophy | 1 | Sep 23, 2016 |
| Blepharophimosis | 1 | Sep 23, 2016 |
| Blindness | 1 | Sep 23, 2016 |
| Blue nevus | 1 | Sep 23, 2016 |
| Brachycephaly | 5 | Sep 23, 2016 |
| Brachydactyly type B1 | 1 | Sep 23, 2016 |
| Brisk reflexes | 1 | Sep 23, 2016 |
| Broad face | 1 | Sep 23, 2016 |
| Broad foot | 1 | Sep 23, 2016 |
| Broad forehead | 2 | Sep 23, 2016 |
| Broad hallux | 1 | Sep 23, 2016 |
| Broad hallux phalanx | 1 | Sep 23, 2016 |
| Broad nasal tip | 1 | Sep 23, 2016 |
| Broad thumb | 1 | Sep 23, 2016 |
| Broad toe | 1 | Sep 23, 2016 |
| Bronchiolitis | 1 | Sep 23, 2016 |
| Bronchogenic cyst | 1 | Sep 23, 2016 |
| Bruising susceptibility | 2 | Sep 23, 2016 |
| Bulbous tips of toes | 1 | Sep 23, 2016 |
| Cafe au lait spots, multiple | 1 | Sep 23, 2016 |
| Cafe-au-lait spot | 4 | Sep 23, 2016 |
| Calcaneovalgus deformity | 1 | Sep 23, 2016 |
| Camptodactyly | 1 | Sep 23, 2016 |
| Camptodactyly of finger | 2 | Sep 23, 2016 |
| Capillary hemangioma | 1 | Sep 23, 2016 |
| Cardiac arrhythmia | 1 | Sep 23, 2016 |
| Carious teeth | 2 | Sep 23, 2016 |
| Cataract | 1 | Sep 23, 2016 |
| Cementoma | 1 | Sep 23, 2016 |
| Cerebellar ataxia | 2 | Sep 23, 2016 |
| Cerebellar dysplasia | 1 | Sep 23, 2016 |
| Cerebral calcification | 1 | Sep 23, 2016 |
| Cerebral ischemia | 1 | Sep 23, 2016 |
| Cerebral palsy | 2 | Sep 23, 2016 |
| Cerebral white matter hypoplasia | 1 | Sep 23, 2016 |
| Chiari malformation | 1 | Sep 23, 2016 |
| Chin with horizontal crease | 1 | Sep 23, 2016 |
| Choreoathetosis | 1 | Sep 23, 2016 |
| Chronic constipation | 3 | Sep 23, 2016 |
| Chronic diarrhea | 2 | Sep 23, 2016 |
| Chronic otitis media | 1 | Sep 23, 2016 |
| Chronic sinusitis | 1 | Sep 23, 2016 |
| Cleft palate | 2 | Sep 23, 2016 |
| Cleft soft palate | 2 | Sep 23, 2016 |
| Cleft upper lip | 2 | Sep 23, 2016 |
| Clinodactyly | 3 | Sep 23, 2016 |
| Clinodactyly of the 3rd toe | 1 | Sep 23, 2016 |
| Clinodactyly of the 5th finger | 5 | Sep 23, 2016 |
| Clinodactyly of the 5th toe | 2 | Sep 23, 2016 |
| Clubfoot | 2 | Sep 23, 2016 |
| Clumsiness | 1 | Sep 23, 2016 |
| Coarctation of aorta | 2 | Sep 23, 2016 |
| Coarse facial features | 1 | Sep 23, 2016 |
| Coarse hair | 2 | Sep 23, 2016 |
| Cognitive impairment | 1 | Sep 23, 2016 |
| Coloboma of optic nerve | 1 | Sep 23, 2016 |
| Colorectal polyposis | 1 | Sep 23, 2016 |
| Complete duplication of thumb phalanx | 1 | Sep 23, 2016 |
| Compulsive behaviors | 3 | Sep 23, 2016 |
| Concave nasal ridge | 1 | Sep 23, 2016 |
| Conductive hearing impairment | 2 | Sep 23, 2016 |
| Congenital cerebellar hypoplasia | 1 | Sep 23, 2016 |
| Congenital diaphragmatic hernia | 3 | Sep 23, 2016 |
| Congenital ectopic pupil | 1 | Sep 23, 2016 |
| Congenital finger flexion contractures | 1 | Sep 23, 2016 |
| Congenital sensorineural hearing impairment | 1 | Sep 23, 2016 |
| Congenital vertical talus | 1 | Sep 23, 2016 |
| Constipation | 4 | Sep 23, 2016 |
| Convex nasal ridge | 1 | Sep 23, 2016 |
| Corneal opacity | 1 | Sep 23, 2016 |
| Corpus callosum, agenesis of | 1 | Sep 23, 2016 |
| Cortical dysplasia | 1 | Sep 23, 2016 |
| Craniosynostosis 4 | 1 | Sep 23, 2016 |
| Craniosynostosis syndrome | 1 | Sep 23, 2016 |
| Cryptorchidism | 6 | Sep 23, 2016 |
| Cutis laxa | 1 | Sep 23, 2016 |
| Cutis marmorata | 1 | Sep 23, 2016 |
| Cyanosis | 1 | Sep 23, 2016 |
| Cystic hygroma | 1 | Sep 23, 2016 |
| Decreased activity of mitochondrial complex III | 1 | Sep 23, 2016 |
| Decreased body weight | 4 | Sep 23, 2016 |
| Decreased fetal movement | 1 | Sep 23, 2016 |
| Decreased response to growth hormone stimulation test | 1 | Sep 23, 2016 |
| Decreased testicular size | 2 | Sep 23, 2016 |
| Deeply set eye | 5 | Sep 23, 2016 |
| Delayed closure of the anterior fontanelle | 1 | Sep 23, 2016 |
| Delayed eruption of primary teeth | 1 | Sep 23, 2016 |
| Delayed fine motor development | 6 | Sep 23, 2016 |
| Delayed gross motor development | 5 | Sep 23, 2016 |
| Delayed myelination | 3 | Sep 23, 2016 |
| Delayed puberty | 1 | Sep 23, 2016 |
| Delayed skeletal maturation | 2 | Sep 23, 2016 |
| Delayed speech and language development | 49 | Sep 23, 2016 |
| Depressed nasal bridge | 7 | Sep 23, 2016 |
| Depressed nasal ridge | 1 | Sep 23, 2016 |
| Depression | 2 | Sep 23, 2016 |
| Developmental cataract | 2 | Sep 23, 2016 |
| Developmental regression | 2 | Sep 23, 2016 |
| Diabetes mellitus type 1 | 1 | Sep 23, 2016 |
| Diastema | 1 | Sep 23, 2016 |
| Diffuse white matter abnormalities | 1 | Sep 23, 2016 |
| Dilatation of the sinus of Valsalva | 1 | Sep 23, 2016 |
| Dilation of Virchow-Robin spaces | 2 | Sep 23, 2016 |
| Dolichocephaly | 5 | Sep 23, 2016 |
| Double aortic arch | 1 | Sep 23, 2016 |
| Double inlet left ventricle | 1 | Sep 23, 2016 |
| Downslanted palpebral fissures | 9 | Sep 23, 2016 |
| Downturned corners of mouth | 4 | Sep 23, 2016 |
| Drooling | 4 | Sep 23, 2016 |
| Dry skin | 1 | Sep 23, 2016 |
| Duane retraction syndrome | 1 | Sep 23, 2016 |
| Dysarthria | 2 | Sep 23, 2016 |
| Dyscalculia | 2 | Sep 23, 2016 |
| Dyskinesia | 1 | Sep 23, 2016 |
| Dysphasia | 1 | Sep 23, 2016 |
| Dysplastic corpus callosum | 1 | Sep 23, 2016 |
| EEG abnormality | 4 | Sep 23, 2016 |
| EEG with abnormally slow frequencies | 1 | Sep 23, 2016 |
| EEG with temporal focal spikes | 2 | Sep 23, 2016 |
| Ear malformation | 2 | Sep 23, 2016 |
| Ebstein anomaly | 1 | Sep 23, 2016 |
| Ectopic pancreatic tissue | 1 | Sep 23, 2016 |
| Eczema | 5 | Sep 23, 2016 |
| Emotional lability | 2 | Sep 23, 2016 |
| Encephalopathy | 2 | Sep 23, 2016 |
| Encopresis | 2 | Sep 23, 2016 |
| Entropion | 1 | Sep 23, 2016 |
| Enuresis | 5 | Sep 23, 2016 |
| Epiblepharon of lower lid | 1 | Sep 23, 2016 |
| Epicanthus | 21 | Sep 23, 2016 |
| Epileptic spasm | 1 | Sep 23, 2016 |
| Episodic abdominal pain | 2 | Sep 23, 2016 |
| Epistaxis | 1 | Sep 23, 2016 |
| Erythematous papule | 1 | Sep 23, 2016 |
| Esotropia | 3 | Sep 23, 2016 |
| Exotropia | 3 | Sep 23, 2016 |
| Expressive language delay | 10 | Sep 23, 2016 |
| Facial asymmetry | 6 | Sep 23, 2016 |
| Facial hyperostosis | 1 | Sep 23, 2016 |
| Facial hypotonia | 1 | Sep 23, 2016 |
| Facial palsy | 1 | Sep 23, 2016 |
| Failure to thrive | 17 | Sep 23, 2016 |
| Febrile seizure (within the age range of 3 months to 6 years) | 2 | Sep 23, 2016 |
| Feeding difficulties | 14 | Sep 23, 2016 |
| Feeding difficulties in infancy | 2 | Sep 23, 2016 |
| Fetal growth restriction | 1 | Sep 23, 2016 |
| Few cafe-au-lait spots | 1 | Sep 23, 2016 |
| Finger clinodactyly | 1 | Sep 23, 2016 |
| Finger syndactyly | 2 | Sep 23, 2016 |
| Focal impaired awareness seizure | 2 | Sep 23, 2016 |
| Focal-onset seizure | 1 | Sep 23, 2016 |
| Frequent falls | 1 | Sep 23, 2016 |
| Frontal bossing | 3 | Sep 23, 2016 |
| Frontal upsweep of hair | 2 | Sep 23, 2016 |
| Gait imbalance | 1 | Sep 23, 2016 |
| Gastroesophageal reflux | 4 | Sep 23, 2016 |
| Gastrostomy tube feeding in infancy | 4 | Sep 23, 2016 |
| Generalized hypotonia | 1 | Sep 23, 2016 |
| Generalized myoclonic seizure | 3 | Sep 23, 2016 |
| Generalized neonatal hypotonia | 2 | Sep 23, 2016 |
| Generalized non-motor (absence) seizure | 1 | Sep 23, 2016 |
| Generalized opacification of the cornea | 1 | Sep 23, 2016 |
| Generalized-onset seizure | 1 | Sep 23, 2016 |
| Genu valgum | 1 | Sep 23, 2016 |
| Gingival overgrowth | 1 | Sep 23, 2016 |
| Glaucoma | 1 | Sep 23, 2016 |
| Glaucoma of childhood | 1 | Sep 23, 2016 |
| Global brain atrophy | 1 | Sep 23, 2016 |
| Global developmental delay | 93 | Sep 23, 2016 |
| Growth delay | 13 | Sep 23, 2016 |
| Gynecomastia | 2 | Sep 23, 2016 |
| Hallux valgus | 2 | Sep 23, 2016 |
| Hearing abnormality | 1 | Sep 23, 2016 |
| Hearing impairment | 4 | Sep 23, 2016 |
| Heart murmur | 5 | Sep 23, 2016 |
| Hemangioma | 4 | Sep 23, 2016 |
| Hemihypertrophy | 1 | Sep 23, 2016 |
| Hemiparesis | 1 | Sep 23, 2016 |
| High forehead | 4 | Sep 23, 2016 |
| High myopia | 2 | Sep 23, 2016 |
| High palate | 6 | Sep 23, 2016 |
| High, narrow palate | 2 | Sep 23, 2016 |
| Hip dislocation | 1 | Sep 23, 2016 |
| Hirsutism | 4 | Sep 23, 2016 |
| Horseshoe kidney | 1 | Sep 23, 2016 |
| Hydrocele testis | 1 | Sep 23, 2016 |
| Hydrocephalus | 2 | Sep 23, 2016 |
| Hydronephrosis | 1 | Sep 23, 2016 |
| Hyperactive patellar reflex | 1 | Sep 23, 2016 |
| Hyperactivity | 3 | Sep 23, 2016 |
| Hyperconvex toenail | 1 | Sep 23, 2016 |
| Hyperhydroxyprolinemia | 1 | Sep 23, 2016 |
| Hypermetropia | 1 | Sep 23, 2016 |
| Hypernasal speech | 2 | Sep 23, 2016 |
| Hyperpigmentation of the skin | 3 | Sep 23, 2016 |
| Hypertelorism | 12 | Sep 23, 2016 |
| Hyperthyroidism | 1 | Sep 23, 2016 |
| Hypertonia | 3 | Sep 23, 2016 |
| Hypertriglyceridemia | 1 | Sep 23, 2016 |
| Hypertyrosinemia | 1 | Sep 23, 2016 |
| Hypoglycemia | 1 | Sep 23, 2016 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Sep 23, 2016 |
| Hypopigmentation of the skin | 1 | Sep 23, 2016 |
| Hypopigmented skin patches | 1 | Sep 23, 2016 |
| Hypoplasia of deltoid muscle | 1 | Sep 23, 2016 |
| Hypoplasia of penis | 1 | Sep 23, 2016 |
| Hypoplasia of the corpus callosum | 2 | Sep 23, 2016 |
| Hypoplasia of the frontal lobes | 3 | Sep 23, 2016 |
| Hypoplasia of the premaxilla | 2 | Sep 23, 2016 |
| Hypoplastic aortic arch | 1 | Sep 23, 2016 |
| Hypoplastic helices | 1 | Sep 23, 2016 |
| Hypoplastic labia majora | 1 | Sep 23, 2016 |
| Hypoplastic left heart syndrome | 1 | Sep 23, 2016 |
| Hypoplastic nasal bridge | 1 | Sep 23, 2016 |
| Hypoplastic nipples | 1 | Sep 23, 2016 |
| Hypoplastic scapulae | 1 | Sep 23, 2016 |
| Hypoplastic toenails | 2 | Sep 23, 2016 |
| Hypotonia | 36 | Sep 23, 2016 |
| Impaired pain sensation | 1 | Sep 23, 2016 |
| Impaired social interactions | 6 | Sep 23, 2016 |
| Impaired visuospatial constructive cognition | 2 | Sep 23, 2016 |
| Inability to walk | 7 | Sep 23, 2016 |
| Incomplete partition of the cochlea type II | 2 | Sep 23, 2016 |
| Increased blood urea nitrogen | 1 | Sep 23, 2016 |
| Increased body weight | 1 | Sep 23, 2016 |
| Increased intracranial pressure | 1 | Sep 23, 2016 |
| Increased mean corpuscular volume | 1 | Sep 23, 2016 |
| Increased overbite | 2 | Sep 23, 2016 |
| Increased red blood cell mass | 1 | Sep 23, 2016 |
| Infantile axial hypotonia | 1 | Sep 23, 2016 |
| Infantile muscular hypotonia | 1 | Sep 23, 2016 |
| Infantile spasms | 2 | Sep 23, 2016 |
| Inflammatory abnormality of the skin | 1 | Sep 23, 2016 |
| Inflexible adherence to routines | 1 | Sep 23, 2016 |
| Inguinal hernia | 5 | Sep 23, 2016 |
| Insulin resistance | 1 | Sep 23, 2016 |
| Intellectual disability | 13 | Sep 23, 2016 |
| Intellectual disability, mild | 8 | Sep 23, 2016 |
| Intellectual disability, moderate | 1 | Sep 23, 2016 |
| Intellectual disability, severe | 7 | Sep 23, 2016 |
| Intention tremor | 1 | Sep 23, 2016 |
| Interictal epileptiform activity | 2 | Sep 23, 2016 |
| Inversion of nipple | 2 | Sep 23, 2016 |
| Involuntary movements | 1 | Sep 23, 2016 |
| Irido-corneo-trabecular dysgenesis | 1 | Sep 23, 2016 |
| Isolated Pierre-Robin syndrome | 5 | Sep 23, 2016 |
| Joint hypermobility | 6 | Sep 23, 2016 |
| Joint laxity | 2 | Sep 23, 2016 |
| Juvenile rheumatoid arthritis | 1 | Sep 23, 2016 |
| Keloid formation | 1 | Sep 23, 2016 |
| Kyphoscoliosis | 1 | Sep 23, 2016 |
| Labial hypoplasia | 1 | Sep 23, 2016 |
| Large congenital melanocytic nevus | 1 | Sep 23, 2016 |
| Large earlobe | 1 | Sep 23, 2016 |
| Large for gestational age | 2 | Sep 23, 2016 |
| Large hands | 1 | Sep 23, 2016 |
| Left-to-right shunt | 1 | Sep 23, 2016 |
| Legg-Calve-Perthes disease | 1 | Sep 23, 2016 |
| Limb joint contracture | 1 | Sep 23, 2016 |
| Limited shoulder movement | 1 | Sep 23, 2016 |
| Lipedema | 1 | Sep 23, 2016 |
| Long ear | 1 | Sep 23, 2016 |
| Long eyelashes | 3 | Sep 23, 2016 |
| Long face | 2 | Sep 23, 2016 |
| Long foot | 1 | Sep 23, 2016 |
| Long palpebral fissure | 1 | Sep 23, 2016 |
| Long philtrum | 2 | Sep 23, 2016 |
| Long upper lip | 1 | Sep 23, 2016 |
| Low-set ears | 5 | Sep 23, 2016 |
| Low-set, posteriorly rotated ears | 1 | Sep 23, 2016 |
| Lower limb asymmetry | 2 | Sep 23, 2016 |
| Lower limb hypertonia | 2 | Sep 23, 2016 |
| Lower limb muscle weakness | 1 | Sep 23, 2016 |
| Lower limb spasticity | 1 | Sep 23, 2016 |
| Lumbar hypertrichosis | 1 | Sep 23, 2016 |
| Macrocephaly | 14 | Sep 23, 2016 |
| Macroorchidism | 1 | Sep 23, 2016 |
| Macrotia | 5 | Sep 23, 2016 |
| Macular hypopigmented whorls, streaks, and patches | 1 | Sep 23, 2016 |
| Malar flattening | 3 | Sep 23, 2016 |
| Male infertility | 3 | Sep 23, 2016 |
| Mandibular prognathia | 2 | Sep 23, 2016 |
| Medial flaring of the eyebrow | 1 | Sep 23, 2016 |
| Megacolon | 1 | Sep 23, 2016 |
| Megalocornea | 1 | Sep 23, 2016 |
| Metatarsus adductus | 2 | Sep 23, 2016 |
| Metatarsus valgus | 1 | Sep 23, 2016 |
| Metopic synostosis | 1 | Sep 23, 2016 |
| Microcephaly | 20 | Sep 23, 2016 |
| Microdontia | 1 | Sep 23, 2016 |
| Micrognathia | 10 | Sep 23, 2016 |
| Micropenis | 2 | Sep 23, 2016 |
| Microphthalmia | 1 | Sep 23, 2016 |
| Microretrognathia | 2 | Sep 23, 2016 |
| Microtia | 5 | Sep 23, 2016 |
| Midface retrusion | 4 | Sep 23, 2016 |
| Mild conductive hearing impairment | 3 | Sep 23, 2016 |
| Mild global developmental delay | 14 | Sep 23, 2016 |
| Missing ribs | 1 | Sep 23, 2016 |
| Mitral regurgitation | 2 | Sep 23, 2016 |
| Mixed hearing impairment | 1 | Sep 23, 2016 |
| Moderate global developmental delay | 3 | Sep 23, 2016 |
| Monocular strabismus | 1 | Sep 23, 2016 |
| Monocytopenia | 1 | Sep 23, 2016 |
| Motor delay | 28 | Sep 23, 2016 |
| Mottled pigmentation | 1 | Sep 23, 2016 |
| Movement disorder | 1 | Sep 23, 2016 |
| Multicystic kidney dysplasia | 1 | Sep 23, 2016 |
| Multiple palmar creases | 1 | Sep 23, 2016 |
| Muscular dystrophy | 1 | Sep 23, 2016 |
| Myoclonus | 1 | Sep 23, 2016 |
| Myopia | 3 | Sep 23, 2016 |
| Narrow face | 1 | Sep 23, 2016 |
| Narrow mouth | 2 | Sep 23, 2016 |
| Narrow naris | 1 | Sep 23, 2016 |
| Narrow nasal base | 1 | Sep 23, 2016 |
| Nasolacrimal duct obstruction | 1 | Sep 23, 2016 |
| Neonatal hypotonia | 3 | Sep 23, 2016 |
| Nephrolithiasis | 1 | Sep 23, 2016 |
| Neutropenia | 2 | Sep 23, 2016 |
| Numerous nevi | 1 | Sep 23, 2016 |
| Nystagmus | 3 | Sep 23, 2016 |
| Obesity | 10 | Sep 23, 2016 |
| Obsessive-compulsive trait | 1 | Sep 23, 2016 |
| Olfactory lobe agenesis | 1 | Sep 23, 2016 |
| Oligohydramnios | 1 | Sep 23, 2016 |
| Oligomenorrhea | 1 | Sep 23, 2016 |
| Oligospermia | 2 | Sep 23, 2016 |
| Olivopontocerebellar atrophy | 1 | Sep 23, 2016 |
| Open mouth | 3 | Sep 23, 2016 |
| Oppositional defiant disorder | 3 | Sep 23, 2016 |
| Optic nerve hypoplasia | 2 | Sep 23, 2016 |
| Oral motor hypotonia | 2 | Sep 23, 2016 |
| Orofacial cleft | 2 | Sep 23, 2016 |
| Ossifying fibroma of the jaw | 1 | Sep 23, 2016 |
| Osteoporosis | 1 | Sep 23, 2016 |
| Ovarian cyst | 1 | Sep 23, 2016 |
| Overfolded helix | 1 | Sep 23, 2016 |
| Overgrowth | 3 | Sep 23, 2016 |
| Overlapping toe | 3 | Sep 23, 2016 |
| Panhypopituitarism | 1 | Sep 23, 2016 |
| Partial agenesis of the corpus callosum | 3 | Sep 23, 2016 |
| Partial duplication of thumb phalanx | 1 | Sep 23, 2016 |
| Patent ductus arteriosus | 5 | Sep 23, 2016 |
| Patent foramen ovale | 1 | Sep 23, 2016 |
| Pectus carinatum | 1 | Sep 23, 2016 |
| Pectus excavatum | 6 | Sep 23, 2016 |
| Pelvic kidney | 1 | Sep 23, 2016 |
| Penile hypospadias | 7 | Sep 23, 2016 |
| Peripheral arterial stenosis | 1 | Sep 23, 2016 |
| Peripheral neuropathy | 1 | Sep 23, 2016 |
| Persistent open anterior fontanelle | 2 | Sep 23, 2016 |
| Pes cavus | 1 | Sep 23, 2016 |
| Pes planus | 2 | Sep 23, 2016 |
| Piebaldism | 1 | Sep 23, 2016 |
| Plagiocephaly | 4 | Sep 23, 2016 |
| Pneumothorax | 1 | Sep 23, 2016 |
| Pointed chin | 1 | Sep 23, 2016 |
| Polydactyly | 1 | Sep 23, 2016 |
| Polyhydramnios | 1 | Sep 23, 2016 |
| Polymicrogyria | 1 | Sep 23, 2016 |
| Poor coordination | 1 | Sep 23, 2016 |
| Poor fine motor coordination | 2 | Sep 23, 2016 |
| Poor head control | 1 | Sep 23, 2016 |
| Poor motor coordination | 1 | Sep 23, 2016 |
| Poor speech | 2 | Sep 23, 2016 |
| Poor suck | 2 | Sep 23, 2016 |
| Posteriorly placed tongue | 1 | Sep 23, 2016 |
| Posteriorly rotated ears | 4 | Sep 23, 2016 |
| Preauricular pit | 1 | Sep 23, 2016 |
| Preaxial hand polydactyly | 1 | Sep 23, 2016 |
| Premature birth | 1 | Sep 23, 2016 |
| Premature eruption of permanent teeth | 1 | Sep 23, 2016 |
| Premature thelarche | 1 | Sep 23, 2016 |
| Primary amenorrhea | 2 | Sep 23, 2016 |
| Profound global developmental delay | 1 | Sep 23, 2016 |
| Profound sensorineural hearing impairment | 1 | Sep 23, 2016 |
| Profound static encephalopathy | 1 | Sep 23, 2016 |
| Prominent digit pad | 1 | Sep 23, 2016 |
| Prominent forehead | 9 | Sep 23, 2016 |
| Prominent metopic ridge | 1 | Sep 23, 2016 |
| Prominent nasal bridge | 4 | Sep 23, 2016 |
| Prominent nose | 3 | Sep 23, 2016 |
| Prominent occiput | 1 | Sep 23, 2016 |
| Proportionate shortening of all digits | 1 | Sep 23, 2016 |
| Protruding ear | 2 | Sep 23, 2016 |
| Protruding tongue | 2 | Sep 23, 2016 |
| Proximal muscle weakness in lower limbs | 1 | Sep 23, 2016 |
| Proximal placement of thumb | 1 | Sep 23, 2016 |
| Proximal tibial hypoplasia | 1 | Sep 23, 2016 |
| Psychotic disorder | 1 | Sep 23, 2016 |
| Psychotic episodes | 2 | Sep 23, 2016 |
| Ptosis | 1 | Sep 23, 2016 |
| Pulmonary artery stenosis | 1 | Sep 23, 2016 |
| Pulmonary hypoplasia | 2 | Sep 23, 2016 |
| Pulmonary lymphangiectasia | 1 | Sep 23, 2016 |
| Pulmonic stenosis | 3 | Sep 23, 2016 |
| Pustule | 1 | Sep 23, 2016 |
| Pyloric stenosis | 1 | Sep 23, 2016 |
| Receptive language delay | 6 | Sep 23, 2016 |
| Recurrent bronchiolitis | 1 | Sep 23, 2016 |
| Recurrent bronchopulmonary infections | 1 | Sep 23, 2016 |
| Recurrent fractures | 3 | Sep 23, 2016 |
| Recurrent hand flapping | 1 | Sep 23, 2016 |
| Recurrent otitis media | 5 | Sep 23, 2016 |
| Recurrent upper respiratory tract infections | 1 | Sep 23, 2016 |
| Reduced bone mineral density | 1 | Sep 23, 2016 |
| Reduced eye contact | 2 | Sep 23, 2016 |
| Reduced tendon reflexes | 1 | Sep 23, 2016 |
| Reduced visual acuity | 3 | Sep 23, 2016 |
| Relative macrocephaly | 1 | Sep 23, 2016 |
| Respiratory failure requiring assisted ventilation | 1 | Sep 23, 2016 |
| Retinal coloboma | 1 | Sep 23, 2016 |
| Retinal dysplasia | 1 | Sep 23, 2016 |
| Retrognathia | 3 | Sep 23, 2016 |
| Rieger anomaly | 1 | Sep 23, 2016 |
| Round face | 1 | Sep 23, 2016 |
| Sacral dimple | 1 | Sep 23, 2016 |
| Sacral hypertrichosis | 1 | Sep 23, 2016 |
| Sandal gap | 1 | Sep 23, 2016 |
| Sclerocornea | 1 | Sep 23, 2016 |
| Scoliosis | 9 | Sep 23, 2016 |
| Seizure | 36 | Sep 23, 2016 |
| Self-biting | 1 | Sep 23, 2016 |
| Self-injurious behavior | 4 | Sep 23, 2016 |
| Sensorineural hearing loss disorder | 4 | Sep 23, 2016 |
| Setting-sun eye phenomenon | 1 | Sep 23, 2016 |
| Severe failure to thrive | 1 | Sep 23, 2016 |
| Severe global developmental delay | 14 | Sep 23, 2016 |
| Severe intrauterine growth retardation | 1 | Sep 23, 2016 |
| Severe sensorineural hearing impairment | 1 | Sep 23, 2016 |
| Severe short stature | 1 | Sep 23, 2016 |
| Shawl scrotum | 1 | Sep 23, 2016 |
| Short attention span | 2 | Sep 23, 2016 |
| Short chin | 3 | Sep 23, 2016 |
| Short columella | 1 | Sep 23, 2016 |
| Short lingual frenulum | 1 | Sep 23, 2016 |
| Short metatarsal | 2 | Sep 23, 2016 |
| Short neck | 2 | Sep 23, 2016 |
| Short nose | 5 | Sep 23, 2016 |
| Short palpebral fissure | 4 | Sep 23, 2016 |
| Short phalanx of finger | 2 | Sep 23, 2016 |
| Short philtrum | 7 | Sep 23, 2016 |
| Short stature | 18 | Sep 23, 2016 |
| Short toe | 2 | Sep 23, 2016 |
| Shortening of all distal phalanges of the fingers | 1 | Sep 23, 2016 |
| Single transverse palmar crease | 5 | Sep 23, 2016 |
| Single umbilical artery | 1 | Sep 23, 2016 |
| Skin rash | 1 | Sep 23, 2016 |
| Sleep abnormality | 5 | Sep 23, 2016 |
| Sleep apnea | 1 | Sep 23, 2016 |
| Slurred speech | 1 | Sep 23, 2016 |
| Small face | 1 | Sep 23, 2016 |
| Small for gestational age | 2 | Sep 23, 2016 |
| Small scrotum | 1 | Sep 23, 2016 |
| Small thenar eminence | 1 | Sep 23, 2016 |
| Smooth philtrum | 2 | Sep 23, 2016 |
| Somatic sensory dysfunction | 5 | Sep 23, 2016 |
| Sparse and thin eyebrow | 2 | Sep 23, 2016 |
| Sparse hair | 1 | Sep 23, 2016 |
| Spastic diplegia | 1 | Sep 23, 2016 |
| Spasticity | 3 | Sep 23, 2016 |
| Specific learning disability | 18 | Sep 23, 2016 |
| Speech apraxia | 4 | Sep 23, 2016 |
| Speech articulation difficulties | 2 | Sep 23, 2016 |
| Spina bifida occulta | 1 | Sep 23, 2016 |
| Split foot | 1 | Sep 23, 2016 |
| Square face | 1 | Sep 23, 2016 |
| Stenosis of the external auditory canal | 1 | Sep 23, 2016 |
| Stereotypic movement disorder | 3 | Sep 23, 2016 |
| Stereotypical hand wringing | 1 | Sep 23, 2016 |
| Strabismus | 9 | Sep 23, 2016 |
| Supraventricular tachycardia | 1 | Sep 23, 2016 |
| Swan neck-like deformities of the fingers | 1 | Sep 23, 2016 |
| Sydney crease | 1 | Sep 23, 2016 |
| Syndactyly | 1 | Sep 23, 2016 |
| Synophrys | 3 | Sep 23, 2016 |
| Tachypnea | 1 | Sep 23, 2016 |
| Talipes | 1 | Sep 23, 2016 |
| Tall stature | 5 | Sep 23, 2016 |
| Tapered finger | 5 | Sep 23, 2016 |
| Teeth, fused | 1 | Sep 23, 2016 |
| Telangiectasia of the skin | 1 | Sep 23, 2016 |
| Telecanthus | 3 | Sep 23, 2016 |
| Testicular atrophy | 1 | Sep 23, 2016 |
| Tetralogy of Fallot | 1 | Sep 23, 2016 |
| Tetralogy of Fallot with absent pulmonary valve | 1 | Sep 23, 2016 |
| Tetraparesis | 1 | Sep 23, 2016 |
| Thick vermilion border | 2 | Sep 23, 2016 |
| Thickened helices | 1 | Sep 23, 2016 |
| Thickened nuchal skin fold | 1 | Sep 23, 2016 |
| Thickened skin | 2 | Sep 23, 2016 |
| Thin upper lip vermilion | 10 | Sep 23, 2016 |
| Thin vermilion border | 2 | Sep 23, 2016 |
| Thoracic hypoplasia | 1 | Sep 23, 2016 |
| Thrombocytopenia | 1 | Sep 23, 2016 |
| Thrombophilia | 1 | Sep 23, 2016 |
| Tibial torsion | 1 | Sep 23, 2016 |
| Tics | 2 | Sep 23, 2016 |
| Tip-toe gait | 1 | Sep 23, 2016 |
| Toe clinodactyly | 1 | Sep 23, 2016 |
| Torticollis | 1 | Sep 23, 2016 |
| Tracheoesophageal fistula | 2 | Sep 23, 2016 |
| Tracheomalacia | 2 | Sep 23, 2016 |
| Transposition of the great arteries | 1 | Sep 23, 2016 |
| Triangular face | 3 | Sep 23, 2016 |
| Tricuspid regurgitation | 2 | Sep 23, 2016 |
| Triphalangeal thumb | 1 | Sep 23, 2016 |
| Ulnar deviation of the hand | 1 | Sep 23, 2016 |
| Umbilical hernia | 2 | Sep 23, 2016 |
| Uncontrolled eye movements | 1 | Sep 23, 2016 |
| Underdeveloped nasal alae | 1 | Sep 23, 2016 |
| Unilateral microphthalmos | 1 | Sep 23, 2016 |
| Unilateral ptosis | 1 | Sep 23, 2016 |
| Unilateral renal agenesis | 1 | Sep 23, 2016 |
| Unsteady gait | 2 | Sep 23, 2016 |
| Upper limb hypertonia | 1 | Sep 23, 2016 |
| Upper limb spasticity | 1 | Sep 23, 2016 |
| Upslanted palpebral fissure | 6 | Sep 23, 2016 |
| Upturned corners of mouth | 1 | Sep 23, 2016 |
| Uterine hypoplasia | 1 | Sep 23, 2016 |
| Varicocele | 1 | Sep 23, 2016 |
| Vasovagal syncope | 1 | Sep 23, 2016 |
| Velopharyngeal insufficiency | 1 | Sep 23, 2016 |
| Ventricular septal defect | 7 | Sep 23, 2016 |
| Ventriculomegaly | 4 | Sep 23, 2016 |
| Vesicoureteral reflux | 2 | Sep 23, 2016 |
| Visual impairment | 3 | Sep 23, 2016 |
| Vomiting | 1 | Sep 23, 2016 |
| Weight loss | 1 | Sep 23, 2016 |
| White forelock | 1 | Sep 23, 2016 |
| Wide intermamillary distance | 1 | Sep 23, 2016 |
| Wide mouth | 2 | Sep 23, 2016 |
| Wide nasal base | 1 | Sep 23, 2016 |
| Wide nasal bridge | 3 | Sep 23, 2016 |
| Wide nose | 2 | Sep 23, 2016 |
| Widened subarachnoid space | 2 | Sep 23, 2016 |
