12q14 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2012 |
Abnormal aortic morphology
|
disease |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cortical bone morphology
|
disease |
|
Anatomical Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of epiphysis morphology
|
phenotype |
|
Anatomical Abnormality
|
86
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the nares
|
disease |
|
Anatomical Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spleen
|
disease |
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Arnold Chiari Malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
53
|
4
|
0.100 |
None |
|
0 |
|
|
|
Arthralgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
248
|
27
|
0.100 |
None |
|
0 |
|
|
|
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2016 |
Bone pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
139
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 3.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 5.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Brain Ischemia
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
358
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.020 |
None |
1.000 |
2 |
|
1994 |
1996 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Complete duplication of the distal phalanges of the hand
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital disorder of glycosylation type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
80
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2014 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2014 |
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
96
|
8
|
0.100 |
None |
|
0 |
|
|
|