C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1346 |
C3714756 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
1258 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
1192 |
C0013336 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease
|
Growth abnormality
|
1038 |
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 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
855 |
C0028738 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
779 |
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 |
C0018784 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the ear
|
603 |
C0004134 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
602 |
C0005745 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
558 |
C0033377 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
558 |
C0029124 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
501 |
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 |
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 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
374 |
C0040822 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
336 |
C1861403 |
Variable expressivity
|
phenotype |
|
Finding
|
|
|
319 |