Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Late fontanel closure
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Flat occiput
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Overfolded helix
|
phenotype |
|
Finding
|
46
|
7
|
0.100 |
None |
|
0 |
|
|
|
Mutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
47
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hyperostosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Single tumor
|
phenotype |
|
Neoplastic Process
|
63
|
4
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dysphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
63
|
4
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
5
|
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 |
|
|
|
Congenital malrotation of intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
77
|
5
|
0.100 |
None |
|
0 |
|
|
|
Large fontanelle
|
phenotype |
|
Finding
|
77
|
3
|
0.100 |
None |
|
0 |
|
|
|
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
|
|
|
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Tooth Crowding
|
phenotype |
Stomatognathic Diseases
|
Finding
|
82
|
19
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Aphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
86
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Wide spaced nipples
|
phenotype |
|
Finding
|
96
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|