Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses of the metacarpals
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
80
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow decrease in visual acuity
|
phenotype |
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hemifacial Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Neoplasm of the posterior pituitary
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Papule
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
76
|
131
|
0.100 |
None |
|
0 |
|
|
|
Perivascular Epithelioid Cell Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
31
|
|
0.300 |
None |
|
0 |
|
|
|
Amnesia, Transient Global
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.100 |
None |
|
0 |
|
|
|
Pituitary gland enlarged
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.100 |
None |
|
0 |
|
|
|
Excessive daytime somnolence
|
phenotype |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Posterior fossa compression syndrome
|
disease |
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive pulmonary function impairment
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Sarcoma, Spindle Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
46
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased circulating cortisol level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
23
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Neurofibromatosis, type 4, of Riccardi
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
|
0 |
|
|
|