MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
strong |
1.000 |
1 |
2
|
2012 |
2012 |
Sacrococcygeal pilonidal abnormality
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
2-5 finger syndactyly
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Thin ear helix
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.700 |
None |
1.000 |
3 |
7
|
2012 |
2018 |
4-5 finger syndactyly
|
disease |
|
Anatomical Abnormality
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly with Simplified Gyral Pattern
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of the occipital bone
|
phenotype |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small penis
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Olivopontocerebellar hypoplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Finding
|
11
|
6
|
0.100 |
None |
|
0 |
|
|
|
Mild microcephaly
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Severe failure to thrive
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
Pelvic kidney
|
disease |
|
Congenital Abnormality
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Infantile axial hypotonia
|
phenotype |
|
Finding
|
17
|
8
|
0.100 |
None |
|
0 |
|
|
|
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2018 |
Mild short stature
|
phenotype |
|
Finding
|
25
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Arachnoid Cysts
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Bilateral microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Lobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.350 |
strong |
1.000 |
6 |
1
|
2012 |
2018 |
Duodenal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Prominent metopic ridge
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Attenuation of retinal blood vessels
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|