Abnormality of the endocrine system
|
disease |
|
Anatomical Abnormality
|
7
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Distichiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial DNA mutation
|
disease |
|
Congenital Abnormality
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.620 |
None |
1.000 |
8 |
7
|
2010 |
2018 |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
5
|
0.560 |
None |
1.000 |
7 |
2
|
2010 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.060 |
None |
1.000 |
6 |
|
2006 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.130 |
None |
1.000 |
4 |
2
|
2014 |
2017 |
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
|
disease |
|
Disease or Syndrome
|
3
|
8
|
0.100 |
None |
1.000 |
3 |
7
|
2007 |
2016 |
MLASA syndrome
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2014 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Generalized tonic-clonic seizures with focal onset
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
23
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
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
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
OPTIC ATROPHY 5 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |