Motor symptoms
|
phenotype |
|
Sign or Symptom
|
100
|
15
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.110 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Congenital Bilateral Cataracts
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment of all modalities
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased sensory nerve conduction velocity
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of large peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic axonal neuropathy
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
32
|
14
|
0.800 |
None |
1.000 |
42 |
7
|
1996 |
2019 |
Hereditary Sensory and Autonomic Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
6
|
0.050 |
None |
1.000 |
5 |
2
|
2004 |
2016 |
Sensory Neuropathy, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
2
|
0.050 |
None |
1.000 |
5 |
|
2002 |
2012 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.310 |
strong |
1.000 |
3 |
|
1997 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
9
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2004 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.310 |
strong |
1.000 |
2 |
|
2004 |
2018 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2011 |
Hereditary Sensory Radicular Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2002 |
Dysautonomia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
52
|
46
|
0.300 |
strong |
1.000 |
1 |
|
2018 |
2018 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.100 |
None |
|
0 |
|
|
|
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Foot osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |