Creatine phosphokinase serum increased
phenotype
Finding
228
43
0.100
None
0
1
Respiratory insufficiency due to muscle weakness
phenotype
Respiratory Tract Diseases
Finding
85
3
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
1
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Firm muscles
phenotype
Finding
2
0.100
None
0
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Respiratory Paralysis
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
Finding
13
1
0.100
None
0
Splenomegaly
phenotype
Pathological Conditions, Signs and Symptoms
Finding
345
19
0.100
None
0
Wolff-Parkinson-White Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Disease or Syndrome
48
22
0.100
None
0
Shortened PR interval
phenotype
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Finding
6
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
Recurrent respiratory infections
phenotype
Infections; Respiratory Tract Diseases
Finding
318
7
0.100
None
0
Pompe's disease adult onset
disease
Disease or Syndrome
1
0.300
None
0
GLYCOGEN STORAGE DISEASE II, ADULT FORM
disease
Finding
1
6
0.100
None
0
6
Abnormal CNS myelination
disease
Anatomical Abnormality
9
4
0.100
None
0
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.100
None
0
Macroglossia
disease
Stomatognathic Diseases
Disease or Syndrome
115
2
0.100
None
0
Dilatation of the cerebral artery
phenotype
Nervous System Diseases; Cardiovascular Diseases
Anatomical Abnormality
26
1
0.100
None
0
Mitochondrial Myopathies
group
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
121
19
0.010
None
1.000
1
1986
1986
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
disease
Disease or Syndrome
34
3
0.010
None
1.000
1
1997
1997
Ataxia Telangiectasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
384
698
0.010
None
1.000
1
1997
1997
Anaplastic thyroid carcinoma
disease
Neoplasms
Neoplastic Process
392
16
0.010
None
1.000
1
1997
1997
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.010
None
1.000
1
1997
1997
Aplasia Cutis Congenita
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Congenital Abnormality
393
14
0.010
None
1.000
1
1997
1997