NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.900 |
None |
1.000 |
3 |
11
|
2015 |
2017 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
11
|
0.510 |
None |
1.000 |
3 |
|
2015 |
2018 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.440 |
None |
1.000 |
4 |
2
|
2015 |
2018 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.320 |
None |
1.000 |
3 |
|
2015 |
2019 |
Hereditary Motor and Sensory Neuropathy Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
84
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Charcot-Marie-Tooth Disease, Type Ib
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
12
|
51
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Inversion of nipple (disorder)
|
disease |
Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
27
|
7
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|