SECKEL SYNDROME 7
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
limited |
1.000 |
2 |
2
|
2012 |
2014 |
Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of the 5th finger
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Severe postnatal growth retardation
|
phenotype |
|
Finding
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Lumbar scoliosis
|
disease |
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral breast hypoplasia
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Infantile uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
160
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Spondyloepimetaphyseal dysplasia with multiple dislocations
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
2
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.100 |
None |
|
0 |
|
|
|