PERIVENTRICULAR NODULAR HETEROTOPIA 7
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.610 |
None |
1.000 |
3 |
4
|
2013 |
2018 |
Orthostatic Hypotensive Disorder, Streeten Type
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Periventricular Heterotopia, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
38
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Reflex Epilepsy, Photosensitive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.020 |
None |
0.500 |
2 |
|
2007 |
2015 |
Bilateral Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.310 |
None |
1.000 |
2 |
|
2016 |
2018 |
Polysyndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
NEPHRONOPHTHISIS 2
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Liddle Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
19
|
6
|
0.060 |
None |
0.833 |
6 |
|
2004 |
2015 |
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.640 |
None |
1.000 |
4 |
|
2016 |
2019 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
|
0 |
|
|
|
Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hypotension, Orthostatic
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
82
|
21
|
0.020 |
None |
0.500 |
2 |
1
|
2005 |
2009 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
85
|
16
|
0.100 |
None |
|
0 |
|
|
|
Migraine with Aura
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
87
|
56
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Epilepsy, Generalized
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
93
|
36
|
0.010 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dyslexia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
118
|
30
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2016 |
Pyloric Stenosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
121
|
4
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Syndactyly of the toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
129
|
11
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Paroxysmal nocturnal hemoglobinuria
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
132
|
12
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
136
|
10
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|