Cognitive deterioration
|
disease |
|
Mental or Behavioral Dysfunction
|
39
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
27
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
31
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Retinal flecking
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Saccadic smooth pursuit
|
phenotype |
|
Finding
|
22
|
5
|
0.100 |
None |
|
0 |
|
|
|
Urinary bladder sphincter dysfunction
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Functional abnormality of the bladder
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Leg muscle stiffness
|
phenotype |
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Deep cerebral white matter hyperdensities
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
|
0 |
3
|
|
|
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 |
TARSAL-CARPAL COALITION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
261
|
13
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2019 |
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.390 |
None |
1.000 |
11 |
1
|
2007 |
2019 |