Bilateral foot drop
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Nemaline Myopathy 2
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
265
|
0.920 |
definitive |
1.000 |
39 |
265
|
1998 |
2018 |
Mitochondrial depletion
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Foot Drop
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Sternocleidomastoid amyotrophy
|
disease |
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Late-onset distal muscle weakness
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Nemaline Myopathy, Autosomal Recessive
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.060 |
None |
1.000 |
6 |
|
1998 |
2011 |
Nemaline Myopathy, Childhood Onset
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
|
0 |
|
|
|
Lymphatic Diseases
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fatigable weakness of distal limb muscles
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Cap Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Edema of dorsum of hand
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the diaphragm
|
phenotype |
|
Anatomical Abnormality
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neuromuscular dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of muscle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased muscle lipid content
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Fatiguable weakness of proximal limb muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of bulbar muscles
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple prenatal fractures
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nemaline bodies
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Pain in limb
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
16
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Increased connective tissue
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|