Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Fibrillation, Paroxysmal Familial, 2
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Protruding ear
|
phenotype |
|
Finding
|
152
|
6
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
4
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal degeneration
|
disease |
Eye Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Alternating esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Amblyopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
29
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
1
|
0.700 |
strong |
1.000 |
1 |
1
|
2013 |
2013 |
Microcephaly autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.310 |
None |
1.000 |
1 |
|
2013 |
2013 |
Amyotrophic Lateral Sclerosis With Dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Amyotrophic Lateral Sclerosis, Guam Form
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pelvic Organ Prolapse
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
119
|
49
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |