Microcephaly with Chorioretinopathy, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
1
|
0.500 |
None |
1.000 |
1 |
|
2012 |
2012 |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.400 |
strong |
1.000 |
1 |
7
|
2012 |
2012 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.300 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Maximal Midexpiratory Flow Rate
|
phenotype |
|
Clinical Attribute
|
1
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
6
|
2017 |
2017 |
Polysomnography
|
phenotype |
|
Diagnostic Procedure
|
119
|
249
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Protruding ear
|
phenotype |
|
Finding
|
152
|
6
|
0.100 |
None |
|
0 |
|
|
|
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
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 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal dysplasia
|
disease |
|
Anatomical Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyelash morphology
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|