Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Immune diffusion
|
phenotype |
|
Laboratory Procedure
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Childhood-onset truncal obesity
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Gastrointestinal malrotation
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Curved toe phalanx
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed social development
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
|
0 |
2
|
|
|
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.100 |
None |
|
0 |
1
|
|
|
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
184
|
32
|
0.100 |
None |
|
0 |
1
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
1.000 |
2 |
2
|
2002 |
2019 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.100 |
None |
1.000 |
25 |
18
|
2002 |
2019 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.100 |
None |
1.000 |
22 |
31
|
2002 |
2017 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
276
|
54
|
0.100 |
None |
|
0 |
1
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
1.000 |
2 |
1
|
2002 |
2016 |
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
1
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
|
0 |
1
|
|
|
Vitamin B 12 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
11
|
0.100 |
None |
|
0 |
1
|
|
|