MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
disease |
|
Disease or Syndrome
|
2
|
10
|
0.700 |
strong |
1.000 |
8 |
10
|
1989 |
2017 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.650 |
None |
1.000 |
6 |
|
2012 |
2019 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
disease |
|
Disease or Syndrome
|
2
|
20
|
0.600 |
None |
1.000 |
9 |
20
|
1989 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.450 |
strong |
1.000 |
5 |
|
2013 |
2019 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.410 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.310 |
None |
1.000 |
2 |
|
2012 |
2019 |
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 |
1.000 |
2 |
|
2012 |
2012 |
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 |
1.000 |
2 |
|
2012 |
2012 |
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
alpha-Dystroglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Muscle eye brain disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
74
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Fetal Cerebral Ventriculomegaly
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hydrocephalus Ex-Vacuo
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Post-Traumatic Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Communicating Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Obstructive Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital Hydrocephalus
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cobblestone Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
23
|
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Exercise-induced myoglobinuria
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|