Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic cervical vertebrae
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Short 1st metacarpal
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic sacrum
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Aplasia of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Incomplete partition of the cochlea type II
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2017 |
2017 |
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.100 |
None |
|
0 |
|
|
|
Mitral Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
170
|
7
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
96
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic Left Heart Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
52
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.110 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Allanson Pantzar McLeod syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
23
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Penile hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
127
|
83
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |