Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
15 |
2
|
2004 |
2015 |
SECKEL SYNDROME 6
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.400 |
None |
1.000 |
3 |
3
|
2011 |
2015 |
Height
|
phenotype |
|
Organism Attribute
|
249
|
517
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
2
|
2008 |
2008 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.310 |
None |
1.000 |
1 |
|
2011 |
2011 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Solid Neoplasm
|
phenotype |
Neoplasms
|
Neoplastic Process
|
1145
|
24
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Carcinoma, Transitional Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
623
|
12
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cortical bone morphology
|
disease |
|
Anatomical Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Congenital malformation syndromes associated with short stature
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
|
0 |
|
|
|
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.200 |
None |
|
0 |
|
|
|