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 |
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 |
Congenital macroglossia
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
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 |
Discordant ventriculoarterial connection
|
disease |
|
Congenital Abnormality
|
10
|
1
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
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 |
Hypesthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Regular astigmatism - corneal
|
disease |
Eye Diseases
|
Disease or Syndrome
|
34
|
28
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Narrow palpebral fissure
|
phenotype |
|
Finding
|
34
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Conotruncal defect
|
disease |
|
Congenital Abnormality
|
51
|
45
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
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 |
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Foramen Ovale, Patent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
0.100 |
None |
|
0 |
|
|
|
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Language Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
94
|
25
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Open mouth (finding)
|
phenotype |
|
Finding
|
96
|
11
|
0.100 |
None |
|
0 |
|
|
|
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
16 |
1
|
1971 |
2018 |
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|