Deep cerebral white matter hyperdensities
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
LEBER CONGENITAL AMAUROSIS 13
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
20
|
0.100 |
None |
1.000 |
6 |
4
|
2005 |
2015 |
Spastic paraplegia 15, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
46
|
0.950 |
None |
1.000 |
17 |
46
|
2007 |
2016 |
Functional abnormality of the bladder
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal flecking
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Troyer syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spastic paraplegia 11, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
134
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pseudobulbar Palsy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Leg muscle stiffness
|
phenotype |
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Upper limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Saccadic smooth pursuit
|
phenotype |
|
Finding
|
22
|
5
|
0.100 |
None |
|
0 |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
27
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Urinary bladder sphincter dysfunction
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
31
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cognitive deterioration
|
disease |
|
Mental or Behavioral Dysfunction
|
39
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Urgency of micturition
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |