Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
phenotype |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
5
|
0.790 |
definitive |
0.952 |
16 |
4
|
1991 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
218
|
417
|
0.400 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
30
|
|
0.400 |
None |
1.000 |
1 |
|
1998 |
2019 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
134
|
547
|
0.400 |
None |
0.818 |
1 |
|
1991 |
2019 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
137
|
78
|
0.400 |
None |
0.857 |
1 |
|
1991 |
2019 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
159
|
416
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
11
|
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2018 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
47
|
30
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.310 |
None |
1.000 |
1 |
|
2005 |
2009 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
240
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2019 |
Colonic Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
152
|
6
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2009 |
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
9
|
8
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
82
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Developmental Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Brain Diseases, Metabolic, Inherited
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Brain Diseases, Metabolic, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Central Nervous System Inborn Metabolic Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Diastematomyelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
268
|
231
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Spinal Cord Myelodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |