MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
7
|
0.700 |
None |
1.000 |
2 |
7
|
2012 |
2016 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.320 |
strong |
1.000 |
3 |
|
2012 |
2019 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.320 |
None |
1.000 |
2 |
|
2012 |
2017 |
PROSTATE CANCER, HEREDITARY, 1
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
62
|
2
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Prostate cancer, familial
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
116
|
25
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.130 |
None |
1.000 |
3 |
|
2016 |
2019 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Mirror movements disorder
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
39
|
9
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cortical bone morphology
|
disease |
|
Anatomical Abnormality
|
41
|
|
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 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly, severe
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|