Trisomy 4p
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Hypoplastic pubic rami
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sternal ossification
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia cutis congenita of scalp
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Malrotation of small bowel
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Pitt-Rogers-Danks Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.500 |
None |
1.000 |
2 |
|
2009 |
2014 |
Gallbladder anomaly congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Periventricular cysts
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses of the metacarpals
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Aggressive reaction
|
phenotype |
Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperconvex fingernails
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short upper lip
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rib segmentation abnormalities
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Rieger eye malformation sequence
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital ectopic pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent glabella
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the nipples
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Craniofacial asymmetry
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Persistent cavum septum pellucidum
|
phenotype |
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microdeletion syndromes
|
disease |
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Chondroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Calvarial skull defect
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Rieger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
23
|
7
|
0.100 |
None |
|
0 |
|
|
|
Short hallux
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Sotos' syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |