Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Subcortical Band Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Overriding toe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
47
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
1
|
|
|
Nodding spasm
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Long toe
|
phenotype |
|
Finding
|
24
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Long fingers
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Secondary Caesarian section
|
phenotype |
|
Finding
|
13
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
EEG with multifocal slow activity
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
EEG with focal spike waves
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Tapered toe
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Agyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.400 |
None |
1.000 |
1 |
|
2013 |
2013 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
1.000 |
1 |
|
2006 |
2006 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
24
|
2017 |
2017 |