Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
MENTAL RETARDATION, X-LINKED 31
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive neurologic deterioration
|
phenotype |
Mental Disorders
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormal mitochondrial morphology
|
phenotype |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Psychomotor Agitation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|