Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Recessive Parkinsonism
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
33
|
1
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Autosomal Dominant Parkinsonism
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
3
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Central hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Astrocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonism, Juvenile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Latent autoimmune diabetes mellitus in adult
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
49
|
12
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Esophageal Varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
56
|
5
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus, Ketosis-Prone
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
57
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Postural instability
|
phenotype |
Nervous System Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Paratuberculosis
|
disease |
Infections; Animal Diseases
|
Disease or Syndrome
|
61
|
6
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2016 |
Diabetic Ketoacidosis
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
63
|
3
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
67
|
37
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
|
|
|
MUTYH-Associate Polyposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
73
|
36
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.100 |
None |
|
0 |
|
|
|
Polycythemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
82
|
22
|
0.420 |
None |
1.000 |
3 |
|
2012 |
2019 |
Impaired insulin secretion
|
disease |
|
Disease or Syndrome
|
88
|
14
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |