Urinary bladder sphincter dysfunction
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
47
|
4
|
0.100 |
None |
|
0 |
|
|
|
Calvarial hyperostosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Nausea and vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
257
|
11
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Dyscalculia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Paralysed
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0037763 |
Disease: |
Spasm
|
Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Xerostomia
|
disease |
Stomatognathic Diseases
|
Finding
|
56
|
1
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mood swings
|
disease |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
171
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|