Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
162
|
240
|
0.100 |
None |
1.000 |
12 |
1
|
1973 |
2013 |
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
13
|
14
|
0.110 |
None |
1.000 |
1 |
1
|
2002 |
2017 |
Lower limb amyotrophy
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Sacral agenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
190
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
9
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
303
|
505
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
10
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
34
|
0.100 |
None |
|
0 |
1
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.110 |
None |
1.000 |
0 |
1
|
2007 |
2007 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
54
|
69
|
0.100 |
None |
|
0 |
1
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
37
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
335
|
611
|
0.100 |
None |
1.000 |
12 |
2
|
1973 |
2013 |
Early severe fetal akinesia sequence
|
phenotype |
|
Finding
|
12
|
15
|
0.100 |
None |
1.000 |
1 |
2
|
2020 |
2020 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
14
|
0.110 |
None |
1.000 |
0 |
2
|
2019 |
2019 |
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
39
|
59
|
0.100 |
None |
|
0 |
2
|
|
|
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
limited |
|
0 |
2
|
|
|
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
11
|
15
|
0.100 |
None |
|
0 |
2
|
|
|
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
38
|
0.200 |
None |
0.960 |
14 |
3
|
2005 |
2019 |