Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
18 |
4
|
1998 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
18 |
1
|
1998 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.390 |
None |
1.000 |
10 |
2
|
2011 |
2018 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.200 |
None |
1.000 |
10 |
2
|
2012 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.480 |
None |
1.000 |
9 |
|
2010 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
20
|
0.700 |
None |
1.000 |
9 |
20
|
2010 |
2018 |
Spinal muscular atrophy with lower extremity predominance
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.050 |
None |
1.000 |
5 |
|
2012 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
1984 |
2007 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.430 |
None |
1.000 |
4 |
1
|
2013 |
2017 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2017 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2013 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.030 |
None |
0.667 |
3 |
|
2006 |
2016 |
Distal Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
8
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.030 |
None |
0.667 |
3 |
|
2014 |
2017 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.020 |
None |
1.000 |
2 |
|
1991 |
1991 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.310 |
None |
1.000 |
2 |
1
|
2015 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
GLOMUVENOUS MALFORMATIONS
|
disease |
Neoplasms
|
Disease or Syndrome
|
13
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.400 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Familial Nonmedullary Thyroid Cancer
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
66
|
2
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Medullary carcinoma of thyroid
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
330
|
71
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |