Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
< 0.001 |
1 |
1
|
2007 |
2007 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.380 |
None |
1.000 |
9 |
3
|
2006 |
2019 |
COENZYME Q10 DEFICIENCY, PRIMARY, 1
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.700 |
None |
1.000 |
13 |
5
|
2006 |
2018 |
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
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 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Downbeat nystagmus
|
phenotype |
Eye Diseases; Nervous System Diseases
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
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 |
|
|
|
EEG with focal spikes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Episodic vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
Erectile dysfunction
|
disease |
Male Urogenital Diseases; Mental Disorders
|
Disease or Syndrome
|
256
|
44
|
0.100 |
None |
|
0 |
|
|
|
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
2
|
2013 |
2014 |
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Female anorgasmia
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense basal ganglia lesion
|
phenotype |
|
Finding
|
46
|
3
|
0.100 |
None |
|
0 |
|
|
|