Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2012 |
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.100 |
None |
0.957 |
46 |
|
1999 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.100 |
None |
0.962 |
26 |
|
2004 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
15 |
|
2004 |
2018 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.100 |
None |
0.900 |
10 |
|
2005 |
2015 |
Partial Trisomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
29
|
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2011 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2015 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2014 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2014 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2015 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2015 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2015 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2013 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.020 |
None |
0.500 |
2 |
|
2005 |
2005 |
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2005 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital macroglossia
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Ebstein Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |