KABUKI SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
20
|
0.400 |
None |
1.000 |
8 |
20
|
2012 |
2019 |
Anoperineal fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent eyelashes
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lateral third of lower eyelids
|
phenotype |
Eye Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Premature development of the breasts
|
phenotype |
Endocrine System Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Crossed fused renal ectopia
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent aspiration pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lip pit
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Obstruction of pelviureteric junction
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Mucinous gastric carcinoma
|
disease |
|
Neoplastic Process
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
|
|
|
Carcinoma in situ of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Prominent fingertip pads
|
phenotype |
|
Finding
|
16
|
8
|
0.100 |
None |
|
0 |
|
|
|
Short 5th finger
|
disease |
|
Congenital Abnormality
|
18
|
3
|
0.100 |
None |
|
0 |
|
|
|
Duplicated collecting system
|
disease |
|
Anatomical Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of finger
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Short columella
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|
Severe psychomotor retardation
|
phenotype |
|
Mental or Behavioral Dysfunction
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Gonadal Dysgenesis, 45,X
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Depressed nasal tip
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anal Stenosis, CTCAE
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Insulin-Like Growth Factor I Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |