Distal monosomy 13q syndrome
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
HOLOPROSENCEPHALY 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
HOLOPROSENCEPHALY 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
14
|
0.900 |
None |
1.000 |
12 |
14
|
1998 |
2016 |
HOLOPROSENCEPHALY 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Nonsyndromic Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2014 |
Rhombencephalosynapsis
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Bifid nose
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Asplenia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
5
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Rachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Alobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Midnasal stenosis
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Semilobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
17
|
5
|
0.400 |
None |
|
0 |
2
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida Cystica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
21
|
5
|
0.010 |
None |
< 0.001 |
1 |
1
|
2004 |
2004 |
Cleft face
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Diastematomyelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Iniencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Spinal Cord Myelodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Arachnoid Cysts
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Cyclocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Lobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
37
|
2
|
0.300 |
None |
|
0 |
|
|
|
Epithelial cyst
|
phenotype |
Neoplasms
|
Anatomical Abnormality
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |