Hypoplastic finger
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
Absent thumbnail
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Uni- and bilateral multifocal epileptiform discharges
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with spike-wave complexes
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad phalanx of the toes
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Focal seizures, afebril
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.100 |
None |
|
0 |
|
|
|
Eyelid myoclonias
|
disease |
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
disease |
|
Disease or Syndrome
|
11
|
76
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Broad finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Infantile encephalopathy
|
phenotype |
Nervous System Diseases
|
Finding
|
14
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
EEG with burst suppression
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.100 |
None |
|
0 |
|
|
|
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|