Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
EEG with multifocal slow activity
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.100 |
None |
|
0 |
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Impulsive Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
276
|
69
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|