Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
16 |
7
|
1971 |
2018 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.160 |
None |
1.000 |
6 |
|
2003 |
2019 |
Transposition of the Great Arteries, Dextro-Looped 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
6
|
12
|
0.700 |
limited |
1.000 |
3 |
12
|
2003 |
2016 |
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
|
disease |
|
Disease or Syndrome
|
1
|
26
|
0.700 |
moderate |
1.000 |
3 |
26
|
2013 |
2017 |
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.120 |
None |
1.000 |
2 |
2
|
2015 |
2019 |
Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
39
|
3
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Discordant ventriculoarterial connection
|
disease |
|
Congenital Abnormality
|
10
|
1
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.300 |
moderate |
1.000 |
1 |
|
2015 |
2015 |
Congenital macroglossia
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.110 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Speech Delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
58
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Regular astigmatism - corneal
|
disease |
Eye Diseases
|
Disease or Syndrome
|
34
|
28
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
KLEEFSTRA SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
25
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Prieto X-linked mental retardation syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Conotruncal defect
|
disease |
|
Congenital Abnormality
|
51
|
45
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Kleefstra syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
9
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |