14q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
14q11.2 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the central nervous system
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Tongue thrusting when swallowing, abnormal persistence beyond early childhood
|
phenotype |
Stomatognathic Diseases
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Flaring of rib cage
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Infra-orbital crease
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
FOXG1 syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
5
|
46
|
0.790 |
None |
1.000 |
25 |
46
|
2008 |
2019 |
Tongue thrusting
|
phenotype |
Mental Disorders
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Partial or complete agenesis of corpus callosum
|
disease |
|
Congenital Abnormality
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplastic hippocampus
|
disease |
|
Congenital Abnormality
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of the antitragus
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital phimosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Congenital Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Acrocallosal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
22
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
PITT-HOPKINS SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
9
|
58
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormal CNS myelination
|
disease |
|
Anatomical Abnormality
|
9
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Rett Syndrome, Atypical
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
47
|
0.340 |
None |
1.000 |
6 |
|
2008 |
2019 |
Subacute Bacterial Endocarditis
|
disease |
Infections; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Secondary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
13
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Spinal Neoplasms
|
group |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Intraspinal Neoplasm
|
disease |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Orofaciodigital Syndrome I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
108
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abnormality of the antihelix
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic nerve
|
phenotype |
|
Finding
|
18
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Proportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
19
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
1
|
|
|