Hypodysplasia of the corpus callosum
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Chromosomal mosaicism due to mitotic instability
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Cell or Molecular Dysfunction
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Premature chromatid separation
|
phenotype |
|
Cell or Molecular Dysfunction
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Mosaic variegated aneuploidy syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
5
|
|
0.050 |
None |
1.000 |
5 |
|
2006 |
2019 |
Warburton Anyane Yeboa syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
mosaic variegated aneuploidy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
7
|
|
0.400 |
limited |
1.000 |
13 |
|
2006 |
2020 |
Short sternum
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral hypoplasia
|
phenotype |
|
Finding
|
9
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mosaic variegated aneuploidy syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
10
|
20
|
1.000 |
definitive |
1.000 |
14 |
18
|
2004 |
2019 |
Vaginal Neoplasms
|
group |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular mouth
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cancer, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cancer, Embryonal
|
phenotype |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
PREMATURE CHROMATID SEPARATION TRAIT
|
disease |
|
Disease or Syndrome
|
19
|
10
|
0.640 |
None |
1.000 |
4 |
9
|
2006 |
2014 |
Subaortic stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Variegate Porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hereditary nonpolyposis colorectal carcinoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased nuchal translucency
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormal lung lobation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms, Germ Cell and Embryonal
|
group |
Neoplasms
|
Neoplastic Process
|
34
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
2004 |
2004 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |