Xq25 TRIPLICATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2015 |
2016 |
Xq25 DUPLICATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2015 |
2016 |
Abnormality of the palpebral fissures
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Localized Ewing Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of head or neck
|
phenotype |
|
Anatomical Abnormality
|
6
|
1
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Leukemia, Megakaryoblastic, of Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Facial edema
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Unexplained fevers
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Benign neoplasm of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Curly eyelashes
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Transformation to acute myeloid leukaemia
|
disease |
Neoplasms
|
Neoplastic Process
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Carcinoma in situ of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Cerebral dysmyelination
|
phenotype |
|
Finding
|
17
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Leukemia, Monocytic, Chronic
|
disease |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Speech articulation difficulties
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
High anterior hairline
|
phenotype |
|
Finding
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyebrow
|
phenotype |
|
Finding
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Facial hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hematopoetic Myelodysplasia
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
38
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Preauricular dimple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-Linked Lymphoproliferative Disorder
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
49
|
10
|
0.100 |
None |
1.000 |
17 |
6
|
1998 |
2016 |
Preauricular skin tag
|
phenotype |
|
Finding
|
53
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |