| C0004045 |
BXGD000249 |
Asphyxia Neonatorum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0006325 |
BXGD000393 |
Bruxism |
Stomatognathic Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014547 |
BXGD000927 |
Epilepsies, Partial |
Nervous System Diseases |
| C0014548 |
BXGD000928 |
Epilepsy, Generalized |
Nervous System Diseases |
| C0014550 |
BXGD000930 |
Myoclonic Epilepsy |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020578 |
BXGD001434 |
Hyperventilation |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0022333 |
BXGD001534 |
Jacksonian Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037315 |
BXGD002687 |
Sleep Apnea Syndromes |
Respiratory Tract Diseases; Nervous System Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041960 |
BXGD002943 |
Ureterocele |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086237 |
BXGD003273 |
Epilepsy, Cryptogenic |
Nervous System Diseases |
| C0149958 |
BXGD003395 |
Complex partial seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0152439 |
BXGD003593 |
Retinoschisis |
Eye Diseases |
| C0162635 |
BXGD003964 |
Angelman Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0175713 |
BXGD004014 |
Aicardi's syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0233401 |
BXGD004575 |
Psychiatric symptom |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234535 |
BXGD004688 |
Clonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235820 |
BXGD004772 |
Neonatal encephalopathy |
Nervous System Diseases |
| C0235831 |
BXGD004773 |
Renal Cell Dysplasia |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0236018 |
BXGD004804 |
Aura |
Nervous System Diseases |
| C0239594 |
BXGD004987 |
Short finger |
|
| C0241210 |
BXGD005086 |
Speech Delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0267071 |
BXGD005730 |
Oropharyngeal Dysphagia |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0268059 |
BXGD005805 |
Neonatal hemochromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268583 |
BXGD005997 |
Methylmalonic acidemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270824 |
BXGD006113 |
Visual seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270844 |
BXGD006115 |
Tonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0393698 |
BXGD008122 |
Cryptogenic Infantile Spasms |
Nervous System Diseases |
| C0393706 |
BXGD008126 |
Early infantile epileptic encephalopathy with suppression bursts |
Nervous System Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0410539 |
BXGD008435 |
Craniodiaphyseal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0422850 |
BXGD008457 |
Seizures, Somatosensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422852 |
BXGD008458 |
Seizures, Auditory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422853 |
BXGD008459 |
Olfactory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422854 |
BXGD008460 |
Gustatory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422855 |
BXGD008461 |
Vertiginous seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424139 |
BXGD008520 |
Anxiety and fear |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0438414 |
BXGD008802 |
Myoclonic Encephalopathy |
Nervous System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576226 |
BXGD009527 |
Short foot |
|
| C0598275 |
BXGD009664 |
Diffuse cerebral atrophy |
Nervous System Diseases; Mental Disorders |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0743101 |
BXGD010076 |
developmentally delayed |
|
| C0751056 |
BXGD010306 |
Non-epileptic convulsion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751110 |
BXGD010318 |
Single Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751111 |
BXGD010319 |
Awakening Epilepsy |
Nervous System Diseases |
| C0751122 |
BXGD010325 |
Infantile Severe Myoclonic Epilepsy |
Nervous System Diseases |
| C0751123 |
BXGD010326 |
Atonic Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751494 |
BXGD010472 |
Convulsive Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751496 |
BXGD010474 |
Seizures, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752323 |
BXGD010716 |
Focal Clonic Seizures |
Nervous System Diseases |
| C0752324 |
BXGD010717 |
Focal Tonic Seizures |
Nervous System Diseases |
| C0796085 |
BXGD010796 |
Nance-Horan syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C0947785 |
BXGD011495 |
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) |
|
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1303073 |
BXGD012322 |
Nicolaides Baraitser syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1335177 |
BXGD012771 |
Ovarian Serous Adenocarcinoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1510460 |
BXGD013168 |
Orofaciodigital Syndrome I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1720189 |
BXGD013668 |
Episodic Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836508 |
BXGD014124 |
Generalized tonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1836829 |
BXGD014164 |
Developmental stagnation at onset of seizures |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1839333 |
BXGD014369 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
Nervous System Diseases |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842364 |
BXGD014511 |
Central hypotonia |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1844548 |
BXGD014642 |
Hypoplastic finger |
|
| C1844906 |
BXGD014692 |
Broad finger |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1848204 |
BXGD014915 |
DEAFNESS, X-LINKED 4 (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850456 |
BXGD015146 |
Progressive microcephaly |
|
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1862389 |
BXGD016126 |
ATRIAL SEPTAL DEFECT 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1954751 |
BXGD016601 |
Microdeletion syndromes |
|
| C1969156 |
BXGD016761 |
EEG with burst suppression |
|
| C2675746 |
BXGD017307 |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2748910 |
BXGD017609 |
Rett Syndrome, Atypical |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2931426 |
BXGD018020 |
Orofaciodigital syndrome type1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3281034 |
BXGD018877 |
Multifocal seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3495874 |
BXGD019008 |
Nonepileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3536714 |
BXGD019069 |
Renal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714753 |
BXGD019428 |
RETINOSCHISIS 1, X-LINKED, JUVENILE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3887898 |
BXGD019926 |
Infantile Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021217 |
BXGD020581 |
EEG with generalized slow activity |
|
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4022849 |
BXGD021012 |
Absent thumbnail |
|
| C4022919 |
BXGD021038 |
Appendicular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4023013 |
BXGD021066 |
Stereotypical body rocking |
Mental Disorders |
| C4023014 |
BXGD021067 |
Stereotypical hand wringing |
Mental Disorders |
| C4023484 |
BXGD021201 |
Uni- and bilateral multifocal epileptiform discharges |
|
| C4023499 |
BXGD021204 |
Generalized clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4023528 |
BXGD021211 |
Abnormality of skin morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4023683 |
BXGD021240 |
EEG with spike-wave complexes |
|
| C4023986 |
BXGD021282 |
Broad phalanx of the toes |
|
| C4024167 |
BXGD021295 |
Abnormality of the antitragus |
|
| C4024923 |
BXGD021476 |
Diffuse white matter abnormalities |
Pathological Conditions, Signs and Symptoms |
| C4048158 |
BXGD021890 |
Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4049830 |
BXGD021953 |
Focal seizures, afebril |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317123 |
BXGD022727 |
Myoclonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4505436 |
BXGD022962 |
Generalized Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551584 |
BXGD023362 |
Brain atrophy |
Nervous System Diseases |
| C4551689 |
BXGD023393 |
Sleep-Disordered Breathing |
Respiratory Tract Diseases; Nervous System Diseases |
| C4552072 |
BXGD023482 |
X-linked infantile spasms |
Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4750718 |
BXGD024071 |
Cyclin-dependent kinase-like 5 deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |