MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
disease |
|
Disease or Syndrome
|
6
|
13
|
0.900 |
strong |
1.000 |
25 |
13
|
2001 |
2017 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.720 |
None |
1.000 |
3 |
|
2003 |
2009 |
Muscle eye brain disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
74
|
0.700 |
None |
1.000 |
35 |
74
|
2001 |
2017 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.700 |
strong |
1.000 |
24 |
12
|
2001 |
2017 |
RETINITIS PIGMENTOSA 76
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.700 |
strong |
1.000 |
18 |
13
|
2001 |
2017 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
18
|
0.600 |
None |
1.000 |
13 |
18
|
2001 |
2016 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.340 |
strong |
0.750 |
4 |
|
2007 |
2012 |
alpha-Dystroglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.330 |
None |
1.000 |
3 |
|
2010 |
2017 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.320 |
None |
0.500 |
2 |
|
2016 |
2016 |
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.320 |
None |
1.000 |
2 |
|
2002 |
2003 |
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 |
|
|
|
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
|
0.300 |
None |
|
0 |
|
|
|
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
disease |
|
Disease or Syndrome
|
7
|
13
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
disease |
|
Disease or Syndrome
|
7
|
2
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Multi-core congenital myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
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 |
|
2013 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
|
disease |
|
Disease or Syndrome
|
6
|
21
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
110
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
42
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Myotubular (centronuclear) myopathy
|
disease |
|
Congenital Abnormality
|
10
|
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
|
disease |
|
Disease or Syndrome
|
6
|
3
|
0.200 |
None |
1.000 |
2 |
|
2013 |
2016 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.170 |
None |
1.000 |
7 |
|
2003 |
2016 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.140 |
None |
1.000 |
4 |
|
2003 |
2008 |