PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2015 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
moderate |
1.000 |
1 |
|
2015 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
moderate |
1.000 |
1 |
1
|
2015 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Pontocerebellar Hypoplasia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
6
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Delayed developmental milestones
|
phenotype |
|
Finding
|
1
|
|
0.300 |
moderate |
1.000 |
1 |
|
2015 |
2015 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
3 |
2
|
2008 |
2019 |
Height
|
phenotype |
|
Organism Attribute
|
249
|
517
|
0.100 |
None |
1.000 |
2 |
2
|
2008 |
2010 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Physical Activity Measurement
|
phenotype |
|
Laboratory Procedure
|
160
|
355
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Smoking
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
391
|
765
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Venous Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
378
|
408
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Smoking Behaviors
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
249
|
742
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
|
0 |
1
|
|
|
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pontoneocerebellar hypoplasia
|
disease |
|
Disease or Syndrome
|
27
|
10
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |