Abnormal basal ganglia MRI signal intensity
|
phenotype |
|
Anatomical Abnormality
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrophy/Degeneration involving the caudate nucleus
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal mitral valve physiology
|
phenotype |
|
Anatomical Abnormality
|
4
|
10
|
0.100 |
None |
|
0 |
10
|
|
|
POLG mutation
|
disease |
|
Congenital Abnormality
|
3
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.100 |
None |
|
0 |
2
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplasia of scrotum
|
phenotype |
|
Congenital Abnormality
|
57
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Ulnar polydactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
92
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Cleft palate and bilateral cleft lip
|
disease |
|
Congenital Abnormality
|
18
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Horizontal pendular nystagmus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.500 |
None |
1.000 |
45 |
11
|
1990 |
2020 |
Neuropathy ataxia and retinis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.700 |
None |
0.950 |
20 |
2
|
1990 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.180 |
None |
0.875 |
8 |
5
|
1998 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.070 |
None |
0.857 |
7 |
|
2007 |
2019 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
80
|
53
|
0.130 |
None |
1.000 |
6 |
10
|
2007 |
2018 |
Optic Atrophy, Hereditary, Leber
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
46
|
0.650 |
None |
1.000 |
6 |
3
|
1995 |
2019 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.540 |
None |
1.000 |
6 |
|
2007 |
2019 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.140 |
None |
1.000 |
4 |
1
|
2007 |
2017 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2018 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2020 |
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Histiocytoid Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
3
|
0.100 |
None |
1.000 |
2 |
1
|
2009 |
2016 |