| C0007789 |
BXGD000488 |
Cerebral Palsy |
Nervous System Diseases |
| C0013581 |
BXGD000855 |
Ectopia Lentis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0220988 |
BXGD004352 |
Xanthinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0221333 |
BXGD004441 |
Hypouricemia |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0268119 |
BXGD005821 |
Combined molybdoflavoprotein enzyme deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0752304 |
BXGD010711 |
Hypoxic-Ischemic Encephalopathy |
Nervous System Diseases; Cardiovascular Diseases |
| C0878575 |
BXGD011372 |
Peripheral demyelination |
Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1827700 |
BXGD013777 |
Luxation of lens |
Eye Diseases |
| C1832338 |
BXGD013829 |
Axonal loss |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1848431 |
BXGD014924 |
Xanthine nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854988 |
BXGD015445 |
Molybdenum Cofactor Deficiency, Complementation Group A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1854989 |
BXGD015446 |
Molybdenum Cofactor Deficiency, Complementation Group B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1866231 |
BXGD016388 |
Full cheeks |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3806442 |
BXGD019510 |
Myoclonic spasms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3806447 |
BXGD019511 |
Increased urinary taurine |
|
| C3810487 |
BXGD019661 |
Increased urinary hypoxanthine |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|