MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
limited |
1.000 |
2 |
4
|
2011 |
2014 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Waist-Hip Ratio
|
phenotype |
|
Organism Attribute
|
565
|
1138
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Large basal ganglia
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Multifocal epileptiform discharges
|
phenotype |
|
Finding
|
52
|
9
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Impulsive Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
276
|
69
|
0.100 |
None |
|
0 |
|
|
|
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced concentration span
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
77
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mandibulofacial Dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
42
|
30
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1996 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2017 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.200 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |