Electromyogram abnormal
phenotype
Finding
130
12
0.100
None
0
Creatine phosphokinase serum increased
phenotype
Finding
228
43
0.100
None
0
Weak cry
phenotype
Finding
42
4
0.100
None
0
Sensorineural Hearing Loss (disorder)
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
783
111
0.100
None
0
Facial diplegia
phenotype
Infections; Nervous System Diseases; Stomatognathic Diseases
Finding
42
4
0.100
None
0
Late-onset proximal muscle weakness
phenotype
Finding
7
0.100
None
0
Foot dorsiflexor weakness
phenotype
Finding
70
4
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Muscle fiber splitting
phenotype
Finding
13
0.100
None
0
Keratoderma, Palmoplantar
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Disease or Syndrome
165
19
0.100
None
0
Progressive distal muscle weakness
phenotype
Finding
14
4
0.100
None
0
Dysphonia
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Mental or Behavioral Dysfunction
77
4
0.100
None
0
Deglutition Disorders
group
Digestive System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
389
50
0.100
None
0
Secondary Neoplasm
group
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
2492
85
0.010
None
1.000
1
1993
1993
Brain Neoplasms
group
Neoplasms; Nervous System Diseases
Neoplastic Process
1018
204
0.010
None
1.000
1
1993
1993
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
1993
1993
Meningioma
disease
Neoplasms; Nervous System Diseases
Neoplastic Process
634
43
0.010
None
1.000
1
1993
1993
Pseudoaphakia
disease
Eye Diseases
Disease or Syndrome
28
0.300
None
1.000
1
2001
2001
Lens Opacities
phenotype
Eye Diseases
Finding
24
0.300
None
1.000
1
2001
2001
Myocardial Ischemia
disease
Cardiovascular Diseases
Disease or Syndrome
756
103
0.200
None
1.000
1
2002
2002
Sarcomatoid Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
134
0.300
None
1.000
1
2004
2004
Colonic Neoplasms
group
Digestive System Diseases; Neoplasms
Neoplastic Process
947
45
0.300
None
1.000
1
2004
2004
Chromophobe Renal Cell Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
185
2
0.300
None
1.000
1
2004
2004
Collecting Duct Carcinoma of the Kidney
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
162
0.300
None
1.000
1
2004
2004
Mouth Neoplasms
group
Neoplasms; Stomatognathic Diseases
Neoplastic Process
140
0.300
None
1.000
1
2004
2004