Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
1
|
0.900 |
None |
1.000 |
6 |
1
|
1924 |
2007 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.900 |
strong |
1.000 |
22 |
19
|
1992 |
2019 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.070 |
None |
1.000 |
7 |
1
|
1992 |
2010 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
RETINITIS PIGMENTOSA 40 (disorder)
|
disease |
|
Disease or Syndrome
|
1
|
22
|
0.900 |
limited |
1.000 |
12 |
22
|
1993 |
2016 |
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
32
|
52
|
0.720 |
strong |
1.000 |
3 |
4
|
1994 |
2007 |
Night blindness, congenital stationary, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
X-Linked Csnb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
Cone-rod synaptic disorder, congenital nonprogressive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
4
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
Night blindness, stationary
|
disease |
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
8
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
26
|
9
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
Night Blindness, Congenital Stationary, Type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
19
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.300 |
None |
1.000 |
4 |
|
1996 |
2014 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
4 |
|
2000 |
2013 |