MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
1
|
4
|
0.600 |
None |
1.000 |
4 |
4
|
2007 |
2016 |
Female anorgasmia
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Orthostatic syncope
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Myoglobinuria, Recurrent
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autonomic erectile dysfunction
|
phenotype |
Nervous System Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Heavy proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
2
|
450
|
0.300 |
strong |
|
0 |
|
|
|
COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.700 |
None |
1.000 |
13 |
5
|
2006 |
2018 |
Downbeat nystagmus
|
phenotype |
Eye Diseases; Nervous System Diseases
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
EEG with focal spikes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Autonomic bladder dysfunction
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nephrotic syndrome in children
|
disease |
|
Disease or Syndrome
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Axial dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Undetectable visual evoked potentials
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Striatonigral Degeneration
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Camptocormia
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Acquired Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Severe lactic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrophic iris
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal rapid eye movement sleep
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Edema, generalized
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Pathologic Function
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Neuromuscular dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized Edema, CTCAE
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Scanning speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal disorder
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
15
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Orthostatic hypotension due to autonomic dysfunction
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|