Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Lipoma
|
disease |
Neoplasms
|
Neoplastic Process
|
87
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Conjunctival telangiectasis
|
disease |
|
Disease or Syndrome
|
20
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Peripheral Schwannoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
4
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Islet Cell Tumor
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
108
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the thymus
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the skin
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
1
|
|
|
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.100 |
None |
|
0 |
|
|
|
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent bronchitis
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated alpha-fetoprotein
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the gastrointestinal tract
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mucosal telangiectasiae
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|