Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Xeroderma pigmentosum, variant type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
17
|
0.100 |
None |
1.000 |
2 |
5
|
2000 |
2008 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
JABERI-ELAHI SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.400 |
strong |
1.000 |
1 |
4
|
2014 |
2014 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Retinal damage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Wounds and Injuries
|
Disease or Syndrome
|
32
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |