MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
|
disease |
|
Disease or Syndrome
|
1
|
27
|
0.620 |
None |
1.000 |
7 |
27
|
2010 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.500 |
None |
0.938 |
16 |
4
|
2010 |
2020 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.410 |
None |
1.000 |
2 |
1
|
2013 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
None |
1.000 |
2 |
|
2011 |
2018 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.400 |
None |
1.000 |
13 |
|
2000 |
2018 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.370 |
strong |
1.000 |
7 |
|
2012 |
2019 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.310 |
None |
1.000 |
3 |
|
2010 |
2014 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2010 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
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
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
|
|
Heterotaxy Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
8
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 1, X-LINKED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
17
|
0.200 |
None |
|
0 |
|
|
|
Heterotaxy, Visceral, 3, Autosomal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
29
|
2
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
30
|
2
|
0.200 |
None |
|
0 |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
30
|
3
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
39
|
5
|
0.200 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
5 |
2
|
2010 |
2018 |