Hypokalemic periodic paralysis type 1
|
disease |
|
Disease or Syndrome
|
12
|
24
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Macrocephaly at birth
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
12
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital Fibrosis of the Extraocular Muscles
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Distal upper limb muscle weakness
|
phenotype |
|
Finding
|
13
|
3
|
0.100 |
None |
|
0 |
|
|
|
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
14
|
4
|
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
|
15
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Nemaline bodies
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Multi-core congenital myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.100 |
None |
1.000 |
18 |
|
2002 |
2019 |
Neuroleptic Malignant Syndrome
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
16
|
4
|
0.030 |
None |
0.667 |
3 |
|
1996 |
2010 |
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.500 |
None |
1.000 |
2 |
|
2007 |
2010 |
Renal Osteodystrophy
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.500 |
None |
1.000 |
1 |
|
2007 |
2007 |
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Increased connective tissue
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Type 1 muscle fiber atrophy
|
disease |
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Myoglobinuria
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Infantile axial hypotonia
|
phenotype |
|
Finding
|
17
|
8
|
0.100 |
None |
|
0 |
|
|
|
Familial Periodic Paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
10
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2018 |
periodic paralysis (finding)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
11
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Hypokalemic periodic paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
19
|
0.020 |
None |
1.000 |
2 |
1
|
2004 |
2004 |
Lower limb amyotrophy
|
phenotype |
|
Finding
|
19
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Barber Say syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
21
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |