Porencephaly, Type 1, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
15
|
0.900 |
None |
1.000 |
18 |
15
|
1977 |
2018 |
PORENCEPHALY, FAMILIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.830 |
None |
1.000 |
8 |
1
|
1977 |
2016 |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
|
disease |
|
Disease or Syndrome
|
1
|
|
0.820 |
None |
1.000 |
7 |
|
2005 |
2013 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
18
|
0.770 |
None |
0.909 |
11 |
18
|
2007 |
2019 |
Schizencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
10
|
6
|
0.750 |
strong |
1.000 |
5 |
2
|
2013 |
2019 |
RETINAL ARTERIES, TORTUOSITY OF
|
phenotype |
|
Finding
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Congenital porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
9
|
3
|
0.600 |
None |
1.000 |
24 |
2
|
1977 |
2020 |
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
2
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2007 |
2012 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.520 |
None |
1.000 |
2 |
|
2011 |
2015 |
Axenfeld anomaly (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
7
|
3
|
0.510 |
strong |
1.000 |
3 |
|
2007 |
2010 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.500 |
strong |
1.000 |
15 |
1
|
2006 |
2020 |
Post-traumatic Porencephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
2
|
|
0.500 |
None |
1.000 |
4 |
|
1977 |
2013 |
Familial vascular leukoencephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
3 |
|
2005 |
2013 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.480 |
None |
0.889 |
9 |
|
2007 |
2019 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.420 |
strong |
1.000 |
4 |
|
2007 |
2010 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.420 |
strong |
1.000 |
3 |
|
2007 |
2017 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.420 |
None |
1.000 |
2 |
|
2013 |
2016 |
Porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.400 |
None |
1.000 |
23 |
2
|
1977 |
2020 |
Cerebral Small Vessel Diseases
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
6
|
0.400 |
strong |
1.000 |
11 |
|
2007 |
2020 |
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
5 |
2
|
2006 |
2018 |
Retinal vascular tortuosity
|
phenotype |
|
Finding
|
20
|
1
|
0.400 |
strong |
1.000 |
3 |
|
2007 |
2010 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
1 |
1
|
2007 |
2007 |
Migraine Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
512
|
264
|
0.400 |
strong |
1.000 |
1 |
|
2007 |
2007 |
Cerebral Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
122
|
78
|
0.400 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.370 |
strong |
1.000 |
8 |
|
2007 |
2020 |