Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
1
|
2014 |
2017 |
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
2
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.700 |
None |
1.000 |
3 |
11
|
2014 |
2016 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Sciatic Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
115
|
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Profound global developmental delay
|
disease |
|
Disease or Syndrome
|
58
|
20
|
0.100 |
None |
|
0 |
2
|
|
|
Body Fat Distribution
|
phenotype |
|
Finding
|
90
|
119
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebellar vermis atrophy
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|