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 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
887 |
C1963184 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
|
|
779 |
C4554036 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
|
|
779 |
C0015544 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
734 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
729 |
C0004134 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
602 |
C0020534 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
|
Abnormality of the eye
|
566 |
C0033377 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
558 |
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
|
550 |
C0151889 |
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
526 |
C0026838 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
476 |
C4553743 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
|
|
476 |
C0454644 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
|
Abnormality of the nervous system
|
472 |
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
|
469 |
C0019209 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
|
Abnormality of the digestive system
|
464 |
C0013362 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
457 |
C0239234 |
Low set ears
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
456 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
432 |
C0015934 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
|
Growth abnormality
|
431 |
C3665347 |
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the eye
|
420 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
414 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
409 |