Chromosome 17q21.31 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
17
|
0.750 |
None |
0.900 |
10 |
17
|
2009 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.450 |
None |
1.000 |
6 |
|
2012 |
2018 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.110 |
None |
1.000 |
5 |
11
|
2008 |
2014 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
5 |
1
|
2012 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
2
|
2012 |
2016 |
Uterine Fibroids
|
group |
Neoplasms
|
Neoplastic Process
|
569
|
154
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |
Fibroid Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
413
|
14
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2017 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
3 |
3
|
2016 |
2019 |
Floppy Muscles
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Muscle Tone Atonic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.400 |
None |
1.000 |
2 |
1
|
2012 |
2012 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2019 |
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
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 |
2 |
|
2012 |
2012 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2019 |
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
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 |
2 |
|
2012 |
2012 |
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 |
2 |
|
2012 |
2012 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
2 |
2
|
2016 |
2018 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Alopecia, Male Pattern
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
91
|
743
|
0.100 |
None |
1.000 |
2 |
63
|
2012 |
2016 |
Chromosome 17p Deletion Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Chromosome 17 deletion
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |