CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.710 |
strong |
1.000 |
4 |
8
|
2015 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
9 |
3
|
2009 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
1
|
2009 |
2018 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
1
|
2009 |
2018 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Wide spaced nipples
|
phenotype |
|
Finding
|
96
|
19
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Prominent fingertip pads
|
phenotype |
|
Finding
|
16
|
8
|
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 |
2
|
2017 |
2017 |
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypertrophy of clitoris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
63
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Opisthotonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
32
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Prominent coccyx
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic coccygeal vertebrae
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Brachyonychia
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Skin dimple
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |