Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
None |
|
0 |
|
|
|
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial mottling
|
phenotype |
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Progressive spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Moderately short stature
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Demyelinating motor neuropathy
|
phenotype |
Nervous System Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Central retinal vessel vascular tortuosity
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Tetraplegia/tetraparesis
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Functional motor deficit
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflective spaces on macular OCT
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal, dysarthic speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Ankle clonus
|
phenotype |
|
Finding
|
32
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hepatoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
452
|
22
|
0.070 |
None |
1.000 |
7 |
|
1996 |
2015 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |