Abnormal amniotic fluid
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Complex Partial Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
68
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Decreased CSF homovanillic acid
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Deficiency of oxidase
|
disease |
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
EEG with burst suppression
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.040 |
None |
1.000 |
4 |
1
|
2014 |
2017 |
EPILEPSY, PYRIDOXINE-DEPENDENT
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
26
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.110 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Epithelial ovarian cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
1224
|
129
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Gait, Unsteady
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
143
|
14
|
0.100 |
None |
|
0 |
|
|
|
Global brain atrophy
|
phenotype |
|
Pathologic Function
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2005 |
2005 |
Grand Mal Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
75
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
1
|
|
|
High pitched cry
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|