EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2007 |
2009 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Absent muscle fiber emerin
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular escape rhythm
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal upper limb amyotrophy
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
74
|
0.500 |
None |
|
0 |
|
|
|
Supraventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal lower limb amyotrophy
|
phenotype |
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber atrophy
|
disease |
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
19
|
7
|
0.100 |
None |
|
0 |
|
|
|
Supraventricular arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
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 |
|
|
|
Proximal muscle weakness in upper limbs
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Low density lipoprotein increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
23
|
318
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness in lower limbs
|
phenotype |
|
Finding
|
30
|
4
|
0.100 |
None |
|
0 |
|
|
|
Malignant melanoma of skin of upper limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Malignant melanoma of skin of lower limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Vocal Cord Paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.540 |
limited |
1.000 |
4 |
|
2007 |
2018 |
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|