Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Proximal weakness
|
phenotype |
|
Sign or Symptom
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Peroneal muscle atrophy
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
|
disease |
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hereditary liability to pressure palsies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
23
|
11
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2015 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.100 |
None |
1.000 |
64 |
|
1986 |
2018 |
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.030 |
None |
1.000 |
3 |
2
|
1997 |
2010 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.030 |
None |
1.000 |
3 |
|
1992 |
2009 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Charcot-Marie-Tooth disease, Type 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
3
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2011 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.020 |
None |
1.000 |
2 |
|
1992 |
1998 |
Hereditary Motor and Sensory Neuropathy Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
84
|
0.020 |
None |
1.000 |
2 |
|
1992 |
1999 |
Spastic paraplegia 10, autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
10
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2018 |
Congenital hypomyelinating neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
10
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
27
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
15
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
GIANT AXONAL NEUROPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
20
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
13
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Charcot-Marie-Tooth disease, Type 2B2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Spastic paraplegia 17
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
12
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Charcot-Marie-Tooth disease, Type 2I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
14
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |