C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1346 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1005 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C1963184 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
|
|
779 |
C4554036 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
|
|
779 |
C4553743 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
|
|
476 |
C0239234 |
Low set ears
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
456 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
432 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
414 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
409 |
C3278923 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
407 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
394 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
386 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
374 |
C1861403 |
Variable expressivity
|
phenotype |
|
Finding
|
|
|
319 |
C0541794 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
|
Abnormality of the musculature
|
299 |
C4551915 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
|
|
299 |
C2674608 |
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
295 |
C0541764 |
Delayed bone age
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
291 |
C1865014 |
Long philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
277 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
275 |
C1850049 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
260 |
C0740279 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
253 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
249 |
C4551583 |
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
240 |