PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Broad jaw
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Acral Lentiginous Malignant Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
16
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy, Rolandic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
81
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cancer Relapse
|
disease |
|
Neoplastic Process
|
48
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Leukoencephalopathy, Progressive Multifocal
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
240
|
4
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2008 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
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 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Fibroid Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
413
|
14
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|