Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.410 |
strong |
1.000 |
2 |
3
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
strong |
1.000 |
2 |
|
2019 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
2 |
1
|
2019 |
2019 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.400 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.400 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.310 |
strong |
1.000 |
2 |
|
2019 |
2019 |
Spina Bifida Cystica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
21
|
5
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Upper limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Breath-holding spell
|
phenotype |
|
Sign or Symptom
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Impaired smooth pursuit
|
phenotype |
|
Finding
|
25
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |