CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
11
|
1.000 |
None |
1.000 |
20 |
11
|
2007 |
2019 |
Yunis Varon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
5
|
0.980 |
None |
1.000 |
9 |
5
|
2007 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS 11
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
3 |
6
|
2007 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.600 |
None |
1.000 |
14 |
|
2007 |
2020 |
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Roussy-Levy Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
5
|
0.500 |
None |
1.000 |
2 |
|
2007 |
2012 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.420 |
None |
1.000 |
3 |
|
2009 |
2017 |
Thumb absent
|
phenotype |
|
Finding
|
21
|
|
0.400 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.400 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Aplasia/Hypoplasia of the thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
22
|
1
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
2007 |
2007 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
|
2007 |
2007 |
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 |
|
2007 |
2007 |
Polymicrogyria, Bilateral Occipital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.210 |
None |
1.000 |
2 |
|
2007 |
2012 |
Peroneal muscular atrophy (axonal type) (hypertrophic type)
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2012 |
Hereditary motor and sensory neuropathy, types I-IV
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2012 |
Hypertrophic neuropathy of infancy
|
disease |
|
Disease or Syndrome
|
21
|
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2012 |
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2012 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2016 |
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.100 |
None |
1.000 |
9 |
8
|
2007 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
7 |
2
|
1993 |
2015 |
Transferrin saturation measurement
|
phenotype |
|
Laboratory Procedure
|
26
|
36
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |