INFANTILE CEREBELLAR-RETINAL DEGENERATION
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.740 |
None |
1.000 |
5 |
7
|
2012 |
2019 |
OPTIC ATROPHY 9
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
strong |
1.000 |
2 |
2
|
2012 |
2014 |
Scotoma, Paracentral
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Fumarase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
90
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Appendicular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Myoclonic spasms
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
|
disease |
|
Disease or Syndrome
|
14
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Color Blindness, Red-Green
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Arachnoid Cysts
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
2
|
|
|
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Optic Atrophy 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
2
|
|
|
FRIEDREICH ATAXIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
119
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Tract Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
198
|
109
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
PACHYONYCHIA CONGENITA 3
|
disease |
|
Disease or Syndrome
|
209
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |