SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
2
|
8
|
0.730 |
None |
1.000 |
3 |
8
|
2014 |
2016 |
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
strong |
|
0 |
3
|
|
|
Sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
11
|
0.430 |
strong |
1.000 |
3 |
|
2016 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.160 |
None |
1.000 |
6 |
|
2014 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
239
|
16
|
0.100 |
None |
|
0 |
|
|
|
Scotoma, Ring
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Elliptocytosis, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased mean corpuscular volume
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial atrophy
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Anisocyte Measurement
|
phenotype |
|
Laboratory Procedure
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Photoreceptor layer loss on macular OCT
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Elliptocytosis found
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Microcytic hypochromic anemia (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Serum iron low (finding)
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Anisocytosis
|
phenotype |
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.050 |
None |
1.000 |
5 |
|
2016 |
2019 |