HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
|
disease |
|
Disease or Syndrome
|
2
|
10
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Impaired pursuit initiation and maintenance
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dorsal column of the spinal cord
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
19
|
0.780 |
None |
1.000 |
18 |
19
|
2007 |
2019 |
Dysmyelinating leukodystrophy
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pontocerebellar Hypoplasia Type 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
5
|
13
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
EMG: axonal abnormality
|
phenotype |
|
Pathologic Function
|
6
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Impaired distal proprioception
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
spinal cord involvement
|
disease |
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
0.900 |
10 |
|
2010 |
2019 |
Progressive inability to walk
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spastic/hyperactive bladder
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Leg muscle stiffness
|
phenotype |
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired visuospatial constructive cognition
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Generalized limb muscle atrophy
|
disease |
|
Disease or Syndrome
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial cardiomyopathy
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spastic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
28
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slowed saccades
|
phenotype |
|
Finding
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Episodic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
36
|
9
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Slurred speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
39
|
10
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|