Glut1 Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
7
|
0.800 |
definitive |
0.983 |
59 |
7
|
1989 |
2019 |
DYSTONIA 18 (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
19
|
0.750 |
None |
1.000 |
21 |
19
|
2000 |
2019 |
CHOREOATHETOSIS/SPASTICITY, EPISODIC
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.710 |
None |
1.000 |
4 |
7
|
2008 |
2016 |
GLUT1 DEFICIENCY SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
35
|
0.700 |
definitive |
1.000 |
31 |
35
|
1989 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.700 |
strong |
1.000 |
22 |
4
|
1998 |
2018 |
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
4 |
8
|
2011 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.650 |
strong |
1.000 |
7 |
|
2010 |
2017 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
disease |
|
Finding
|
1
|
11
|
0.600 |
strong |
1.000 |
7 |
11
|
2000 |
2015 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.480 |
None |
1.000 |
10 |
|
1998 |
2019 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.450 |
None |
1.000 |
8 |
1
|
2000 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.440 |
strong |
1.000 |
8 |
3
|
2000 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.430 |
None |
1.000 |
4 |
|
2001 |
2015 |
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.420 |
None |
1.000 |
5 |
1
|
1998 |
2018 |
stomatocytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.410 |
strong |
1.000 |
3 |
|
2011 |
2012 |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
19
|
0.400 |
definitive |
1.000 |
34 |
19
|
1989 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.400 |
None |
0.853 |
34 |
3
|
1990 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.400 |
None |
0.970 |
33 |
|
2004 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.400 |
None |
0.969 |
32 |
|
2004 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.400 |
None |
1.000 |
25 |
|
1993 |
2019 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.400 |
None |
1.000 |
3 |
|
1998 |
2001 |
Stomatocytosis Result
|
phenotype |
|
Laboratory or Test Result
|
13
|
|
0.400 |
strong |
1.000 |
2 |
|
2011 |
2012 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.400 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.380 |
None |
1.000 |
9 |
|
1996 |
2020 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.380 |
None |
1.000 |
9 |
|
2003 |
2018 |