Deformity of facial bone
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
14 |
1
|
1995 |
2014 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
14 |
1
|
1995 |
2014 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
14 |
1
|
1995 |
2014 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
RESTING HEART RATE
|
phenotype |
|
Finding
|
80
|
134
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Central hypotonia
|
phenotype |
|
Finding
|
50
|
25
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
peak expiratory flow (procedure)
|
phenotype |
|
Laboratory Procedure
|
74
|
119
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2015 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |