| C0003635 |
BXGD000214 |
Apraxias |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| 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 |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234357 |
BXGD004650 |
Adiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0750994 |
BXGD010280 |
Cerebellar Hemiataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752120 |
BXGD010668 |
Spinocerebellar Ataxia Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752121 |
BXGD010669 |
Spinocerebellar Ataxia Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752122 |
BXGD010670 |
Spinocerebellar Ataxia Type 4 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752123 |
BXGD010671 |
Spinocerebellar Ataxia Type 5 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752124 |
BXGD010672 |
Spinocerebellar Ataxia Type 6 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752125 |
BXGD010673 |
Spinocerebellar Ataxia Type 7 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837541 |
BXGD014247 |
SPINOCEREBELLAR ATAXIA 20 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849075 |
BXGD015002 |
Relative macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1849667 |
BXGD015073 |
Wide nasal base |
|
| C1854111 |
BXGD015381 |
Broad philtrum |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859680 |
BXGD015917 |
Broad face |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C3541994 |
BXGD019100 |
Drug Hypersensitivity Syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders |
| C3668822 |
BXGD019319 |
Hypermetria (finding) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4225355 |
BXGD022235 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|