Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.400 |
None |
1.000 |
18 |
2
|
2007 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
11 |
1
|
2007 |
2016 |
Lissencephaly 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
40
|
0.700 |
None |
1.000 |
11 |
40
|
2007 |
2018 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.160 |
None |
1.000 |
6 |
3
|
2011 |
2014 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.340 |
None |
1.000 |
5 |
|
2007 |
2013 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2014 |
Classical Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
97
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2014 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.120 |
None |
1.000 |
3 |
1
|
2008 |
2018 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.130 |
None |
1.000 |
3 |
1
|
2011 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2015 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.120 |
None |
1.000 |
2 |
4
|
2010 |
2014 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Histiocytosis, Langerhans-Cell
|
disease |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hydranencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Osteitis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
134
|
58
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Retinopathy of Prematurity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
202
|
16
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |