CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
13
|
0.710 |
None |
1.000 |
38 |
13
|
2005 |
2017 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.710 |
strong |
1.000 |
3 |
1
|
2005 |
2018 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Sleepy facial expression
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
9
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2007 |
Myopathy, Centronuclear, Autosomal Recessive
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
6
|
9
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cavovarus deformity of foot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Anatomical Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Muscle fibrillation
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the foot musculature
|
phenotype |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal degeneration
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly at birth
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
12
|
6
|
0.100 |
None |
|
0 |
|
|
|
Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.710 |
None |
1.000 |
18 |
11
|
2005 |
2016 |
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Inherited Peripheral Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.700 |
definitive |
0.958 |
24 |
1
|
2005 |
2019 |
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2007 |
Spastic paraplegia 10, autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Retinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
16
|
86
|
0.100 |
None |
|
0 |
|
|
|
Axonal degeneration
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.370 |
None |
1.000 |
8 |
|
2005 |
2018 |
Congenital pes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
15
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mixed sensory-motor polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
8
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Segmental peripheral demyelination/remyelination
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness in upper limbs
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Areflexia of lower limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|