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 |
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 |
Hypotrophy of the small hand muscles
|
disease |
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Pear-shaped nose
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Positional foot deformity
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Conspicuously happy disposition
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of hair pigmentation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
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 |
Anteverted ears
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Leukemia, Megakaryoblastic, of Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
15
|
10
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormality of hair texture
|
disease |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Prominent fingertip pads
|
phenotype |
|
Finding
|
16
|
8
|
0.100 |
None |
|
0 |
|
|
|
Narrow palm
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Slender finger
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
82
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Other alopecia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Alopecia, Androgenetic, 3
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Alopecia, Androgenetic, 2
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Alopecia, Androgenetic, 1
|
disease |
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |