SOTOS SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
201
|
0.610 |
None |
1.000 |
16 |
201
|
2002 |
2019 |
Ganglioglioma, Intracranial
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
5q35 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sparse anterior scalp hair
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Chromosome 5, monosomy 5q35
|
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 |
1 |
|
2007 |
2007 |
Tatton Brown Rahman syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
28
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Talipes valgus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Nevo syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Lipedema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Deep-set nails
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Sacrococcygeal teratoma
|
disease |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Neoplastic Process
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Weaver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
13
|
0.650 |
strong |
1.000 |
6 |
|
2003 |
2015 |
Thin nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Overfolding of the superior helices
|
phenotype |
|
Finding
|
10
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Lubs X-linked mental retardation syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Premature tooth eruption
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Large fleshy ears
|
phenotype |
|
Finding
|
13
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormally low-pitched voice
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Persistent cavum septum pellucidum
|
phenotype |
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Enlarged cisterna magna
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Long foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Accessory kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
|
disease |
Neoplasms
|
Neoplastic Process
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |