Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Verbal repetition
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Basal ganglia calcification
|
phenotype |
|
Pathologic Function
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Memory Impairment, CTCAE 5.0
|
phenotype |
|
Finding
|
108
|
|
0.100 |
None |
|
0 |
|
|
|
Memory Impairment, CTCAE 3.0
|
phenotype |
|
Finding
|
109
|
2
|
0.100 |
None |
|
0 |
|
|
|
Forgetful
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
429
|
18
|
0.100 |
None |
|
0 |
|
|
|
Subcutaneous hemorrhage
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Hormone Resistance Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1996 |
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1996 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Leukoencephalopathy, Progressive Multifocal
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
240
|
4
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Central hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Noninfiltrating Intraductal Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
486
|
13
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |