C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1458 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1122 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
954 |
C0015544 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
734 |
C0020534 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
|
Abnormality of the eye
|
590 |
C0025990 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
574 |
C0033377 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
558 |
C0151889 |
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
536 |
C0240635 |
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
496 |
C0239234 |
Low set ears
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
489 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
426 |
C3278923 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
426 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
413 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
407 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
391 |
C0221354 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
320 |
C0235946 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
319 |
C0035229 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
|
Abnormality of the respiratory system
|
304 |
C0221355 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
304 |
C0541764 |
Delayed bone age
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
295 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
288 |
C1865014 |
Long philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
282 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
265 |
C4551583 |
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
246 |