Klippel-Feil Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
5
|
0.740 |
limited |
1.000 |
4 |
|
2008 |
2015 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
7
|
0.730 |
None |
1.000 |
7 |
4
|
1988 |
2013 |
MICROPHTHALMIA, ISOLATED 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2007 |
2014 |
LEBER CONGENITAL AMAUROSIS 17
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
1 |
4
|
2013 |
2013 |
MULTIPLE SYNOSTOSES SYNDROME 4
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.610 |
strong |
1.000 |
3 |
2
|
2008 |
2018 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2015 |
Sacral agenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.300 |
None |
1.000 |
1 |
|
1988 |
1988 |
Microphthalmia associated with colobomatous cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.300 |
moderate |
|
0 |
|
|
|
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2012 |
Otosclerosis
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
49
|
11
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cranial nerves
|
disease |
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bilateral microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
|
|
|