Emery-Dreifuss Muscular Dystrophy 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
10
|
0.600 |
None |
1.000 |
5 |
10
|
2007 |
2013 |
Autosomal Recessive Cerebellar Ataxia Type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.320 |
None |
1.000 |
3 |
|
2007 |
2017 |
Autosomal recessive myogenic arthrogryposis multiplex congenita
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Atrophy/Degeneration affecting the central nervous system
|
phenotype |
|
Pathologic Function
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
32
|
0.700 |
None |
1.000 |
6 |
32
|
2007 |
2017 |
Abnormal motor evoked potentials
|
phenotype |
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Absent muscle fiber emerin
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular escape rhythm
|
phenotype |
|
Pathologic Function
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular septal hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Ataxia, Late Onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Proximal upper limb amyotrophy
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
74
|
0.520 |
None |
1.000 |
2 |
|
2017 |
2018 |
Gaze-evoked horizontal nystagmus
|
phenotype |
Eye Diseases; Nervous System Diseases
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Morphological abnormality of the central nervous system
|
group |
|
Anatomical Abnormality
|
10
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Supraventricular Arrhythmia by ECG Finding
|
phenotype |
|
Laboratory or Test Result
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
SPINOCEREBELLAR ATAXIA 31 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Proximal lower limb amyotrophy
|
phenotype |
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bilateral talipes equinovarus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Limb dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Type 1 muscle fiber atrophy
|
disease |
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebellar atrophy
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmetric saccades
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Myotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
19
|
7
|
0.100 |
None |
|
0 |
|
|
|