Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
43
|
0.620 |
strong |
1.000 |
3 |
|
2012 |
2015 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
|
disease |
|
Disease or Syndrome
|
3
|
5
|
0.600 |
None |
1.000 |
2 |
4
|
2012 |
2015 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
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 |
|
0 |
|
|
|
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 |
|
0 |
|
|
|
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 |
|
|
|
alpha-Dystroglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
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 |
|
|
|
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 |
|
2012 |
2012 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
11
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Cobblestone Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
2
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Metatarsal Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|