EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
|
disease |
|
Disease or Syndrome
|
3
|
11
|
0.700 |
None |
1.000 |
7 |
11
|
2014 |
2017 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.330 |
None |
1.000 |
3 |
|
2015 |
2018 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.320 |
None |
1.000 |
2 |
|
2015 |
2018 |
Kohlschutter Tonz syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
Disease or Syndrome
|
8
|
11
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Deficiency of glutamate decarboxylase
|
disease |
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
EPILEPSY, PYRIDOXINE-DEPENDENT
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
26
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.150 |
None |
1.000 |
5 |
1
|
2015 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.140 |
None |
1.000 |
4 |
1
|
2016 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2017 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Protein measurement
|
group |
|
Laboratory Procedure
|
75
|
422
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Amino acids measurement
|
group |
|
Laboratory Procedure
|
53
|
92
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Leukoaraiosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
72
|
24
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
|
0 |
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|