| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020630 |
BXGD001454 |
Hypophosphatasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0342686 |
BXGD007526 |
Aromatic amino acid decarboxylase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C1291312 |
BXGD012208 |
Deficiency of oxidase |
|
| C1291560 |
BXGD012218 |
Deficiency of glutamate decarboxylase |
|
| C1291564 |
BXGD012219 |
Deficiency of aromatic-L-amino-acid decarboxylase |
|
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1847514 |
BXGD014868 |
Postnatal microcephaly |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849508 |
BXGD015060 |
EPILEPSY, PYRIDOXINE-DEPENDENT |
Nervous System Diseases |
| C1852373 |
BXGD015276 |
Mitochondrial encephalopathy |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C2931835 |
BXGD018072 |
Hyperprolinemia type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4310632 |
BXGD022607 |
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|