Wide spaced nipples
phenotype
Finding
96
19
0.100
None
0
1
West Syndrome
disease
Nervous System Diseases
Disease or Syndrome
149
28
0.100
None
0
Visual Impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
422
0.100
None
0
Visual field constriction
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
57
1
0.100
None
0
Ventricular preexcitation
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
20
2
0.100
None
0
Unspecified visual loss
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases
Sign or Symptom
235
11
0.100
None
0
Undetectable light- and dark-adapted electroretinogram
phenotype
Finding
11
0.100
None
0
Ulnar polydactyly of fingers
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
92
11
0.100
None
0
1
Trichohepatoenteric Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
Disease or Syndrome
424
28
0.010
None
1.000
1
2016
2016
Tonic - clonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
300
32
0.100
None
0
Supraventricular Arrhythmia by ECG Finding
phenotype
Laboratory or Test Result
11
0.100
None
0
Supraventricular arrhythmia
phenotype
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
19
2
0.100
None
0
Striatonigral Degeneration, Infantile, Mitochondrial
disease
Nervous System Diseases
Disease or Syndrome
1
2
0.400
None
1.000
1
2
1995
1995
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
disease
Nervous System Diseases
Disease or Syndrome
10
1
0.300
None
0
Static Tremor
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
62
3
0.100
None
0
Spasticity, CTCAE
phenotype
Finding
477
0.100
None
0
Spastic tetraparesis
disease
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
50
5
0.100
None
0
Spastic Paraplegia, Hereditary
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
123
41
0.010
None
1.000
1
2011
2011
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Small basal ganglia
phenotype
Finding
10
0.100
None
0
Slow decrease in visual acuity
phenotype
Finding
27
3
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Severe intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
429
74
0.100
None
0
Severe global developmental delay
phenotype
Finding
130
50
0.100
None
0