Metachromatic Leukodystrophy due to Saposin B Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.710 |
strong |
1.000 |
10 |
7
|
1990 |
2019 |
Combined Saposin Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.710 |
strong |
1.000 |
8 |
3
|
1978 |
2016 |
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
4 |
6
|
1991 |
2016 |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.620 |
strong |
1.000 |
6 |
1
|
2000 |
2020 |
Infantile Globoid Cell Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2020 |
Metachromatic Leukodystrophy, Infant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
10
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2019 |
Leukodystrophy, Metachromatic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
158
|
0.300 |
None |
1.000 |
17 |
2
|
1990 |
2019 |
Metachromatic Leukodystrophy, Adult-Type (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Metachromatic leukodystrophy, juvenile type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
5
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Globoid cell leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
111
|
0.250 |
None |
1.000 |
8 |
|
2001 |
2020 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.100 |
None |
1.000 |
17 |
1
|
1990 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
4 |
1
|
2005 |
2016 |
Childhood asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
303
|
317
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.100 |
None |
|
0 |
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.100 |
None |
|
0 |
|
|
|
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
EMG: chronic denervation signs
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Forgetful
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
429
|
18
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Spastic tetraparesis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of glycosphingolipid metabolism
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|