SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
3 |
4
|
2014 |
2016 |
Nerve compression syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Entrapment Neuropathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Anti-MAG neuropathy
|
disease |
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Titubation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Temporal pallor of optic disc
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Polyradiculoneuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Multifocal motor neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Hyporeflexia of lower limbs
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Wallerian Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Atrophy of corpus callosum
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Areflexia of lower limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
Poikiloderma with Neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
24
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Pelizaeus-Merzbacher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
30
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
32
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Capillary malformation (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Central nervous system demyelination
|
disease |
|
Disease or Syndrome
|
52
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Monoclonal Gammapathies
|
group |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
62
|
2
|
0.060 |
None |
1.000 |
6 |
|
1986 |
2019 |