Abnormal rapid eye movement sleep
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
Multiple System Atrophy
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
19
|
6
|
0.300 |
None |
|
0 |
|
|
|
Atrophic iris
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.100 |
None |
|
0 |
|
|
|
Severe lactic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Postural instability
|
phenotype |
Nervous System Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormal brain FDG positron emission tomography
|
disease |
|
Anatomical Abnormality
|
18
|
|
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 |
|
|
|
Gastrostomy tube feeding in infancy
|
phenotype |
|
Finding
|
38
|
19
|
0.100 |
None |
|
0 |
|
|
|
EEG with focal spikes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense basal ganglia lesion
|
phenotype |
|
Finding
|
46
|
3
|
0.100 |
None |
|
0 |
|
|
|
Autonomic bladder dysfunction
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neuromuscular dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Edema, CTCAE
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Female anorgasmia
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Undetectable visual evoked potentials
|
phenotype |
|
Finding
|
6
|
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 |
|
|
|