1-2 finger cutaneous 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 emotional state | 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 nail morphology | 1 | 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 speech pattern | 1 | 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 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 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 |
Eczematoid dermatitis | 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 |
Polydactyly of a biphalangeal thumb | 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 |
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 |