MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
12
|
0.960 |
None |
1.000 |
15 |
12
|
2000 |
2016 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
52
|
0.950 |
strong |
1.000 |
45 |
52
|
2000 |
2018 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.800 |
strong |
1.000 |
50 |
18
|
2001 |
2018 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
6 |
7
|
2000 |
2016 |
Muscle eye brain disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
74
|
0.530 |
None |
1.000 |
5 |
|
2004 |
2017 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.500 |
strong |
1.000 |
67 |
3
|
2001 |
2019 |
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.440 |
None |
1.000 |
4 |
1
|
2004 |
2017 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.400 |
None |
1.000 |
25 |
1
|
2003 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2001 |
2001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
16
|
0.400 |
None |
|
0 |
3
|
|
|
alpha-Dystroglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
15
|
0.300 |
None |
|
0 |
|
|
|
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.200 |
None |
1.000 |
29 |
1
|
2001 |
2018 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
15
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Multi-core congenital myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
42
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
disease |
|
Disease or Syndrome
|
6
|
13
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
|
disease |
|
Disease or Syndrome
|
6
|
3
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
disease |
|
Disease or Syndrome
|
7
|
2
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
disease |
|
Disease or Syndrome
|
6
|
21
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Myotubular (centronuclear) myopathy
|
disease |
|
Congenital Abnormality
|
10
|
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
disease |
|
Disease or Syndrome
|
7
|
13
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |
Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
110
|
0.200 |
None |
1.000 |
2 |
|
2010 |
2016 |