Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.300 |
strong |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gowers sign
|
phenotype |
|
Finding
|
54
|
8
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
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 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cyst of pineal gland
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.100 |
None |
|
0 |
|
|
|
Progressive proximal muscle weakness
|
phenotype |
|
Finding
|
28
|
3
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
Easy fatigability
|
phenotype |
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Increased muscle lipid content
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.100 |
None |
|
0 |
|
|
|