Emery-Dreifuss Muscular Dystrophy 6, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
limited |
|
0 |
2
|
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
33
|
0.300 |
None |
|
0 |
|
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Low density lipoprotein increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
23
|
318
|
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 |
|
|
|
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Ventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
9
|
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 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ventricular escape rhythm
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|