CRANIOSYNOSTOSIS 6
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.500 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Congenital absence of part of brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
|
0 |
|
|
|
Congenital hypoplasia of part of brain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
|
0 |
|
|
|
Other reduction deformities of brain
|
disease |
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
|
0 |
|
|
|
Microgyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.200 |
None |
|
0 |
|
|
|
SPINOCEREBELLAR ATAXIA 29
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
10
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Maculopathy with diabetes mellitus
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Metacarpal synostosis
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Hydranencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.200 |
None |
|
0 |
|
|
|
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Craniosynostosis, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
28
|
0.300 |
None |
|
0 |
|
|
|
Paraneoplastic Cerebellar Degeneration
|
disease |
Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Coronal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
3
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2018 |
Agyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
20
|
|
0.200 |
None |
|
0 |
|
|
|
Neonatal Deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital abnormal Synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.400 |
None |
|
0 |
|
|
|
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
31
|
0.200 |
None |
|
0 |
|
|
|
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.300 |
None |
|
0 |
|
|
|
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.600 |
None |
1.000 |
1 |
|
2015 |
2015 |
Papilledema
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.100 |
None |
|
0 |
|
|
|
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.300 |
None |
|
0 |
|
|
|
Visual field defects
|
group |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
47
|
1
|
0.100 |
None |
|
0 |
|
|
|
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |