MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.620 |
None |
1.000 |
5 |
27
|
2010 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
67
|
|
0.500 |
None |
0.938 |
2 |
|
2010 |
2020 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
3
|
0.410 |
None |
1.000 |
1 |
1
|
2013 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.410 |
None |
1.000 |
1 |
|
2011 |
2018 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
22
|
95
|
0.400 |
None |
1.000 |
0 |
|
2000 |
2018 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
22
|
7
|
0.370 |
strong |
1.000 |
0 |
|
2012 |
2019 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2014 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2010 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
507
|
203
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
14
|
5
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Microcephaly, Primary Autosomal Recessive, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|