Aplasia of metacarpal bones
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
|
|
|
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
187
|
23
|
0.100 |
None |
|
0 |
|
|
|
Short humerus
|
phenotype |
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
|
0 |
|
|
|
Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
30
|
14
|
0.100 |
None |
|
0 |
|
|
|
Bladder Diverticulum
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Acquired Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
External Ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Palpebral fissure narrowing on adduction
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired ocular adduction
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired ocular abduction
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Limited interphalangeal movement
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Limited wrist movement
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Pectoralis major hypoplasia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Synostosis of carpal bones
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Crossed fused renal ectopia
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|