Van der Woude syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
2
|
7
|
0.700 |
None |
1.000 |
1 |
7
|
2014 |
2014 |
VAN DER WOUDE SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
2
|
28
|
0.400 |
strong |
1.000 |
1 |
1
|
2014 |
2014 |
Cleft uvula
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lower lip pit
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital lip pits
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2016 |
Cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Abnormal salivary gland morphology
|
phenotype |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Monophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fetal Mummification
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
1983 |
1983 |
Nasal, dysarthic speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short face
|
phenotype |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Branchio-Oculo-Facial Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
16
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Receptive language delay
|
disease |
|
Mental or Behavioral Dysfunction
|
9
|
5
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft soft palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cleft Soft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
13
|
2
|
0.400 |
None |
1.000 |
2 |
|
2016 |
2016 |
Submucous cleft palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
13
|
1
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Lip pit
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2016 |
Nasal regurgitation
|
phenotype |
|
Sign or Symptom
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Orofacial cleft
|
disease |
|
Congenital Abnormality
|
18
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Somatization
|
disease |
|
Mental or Behavioral Dysfunction
|
21
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Speech articulation difficulties
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tricuspid Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
26
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Velopharyngeal Insufficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
27
|
6
|
0.100 |
None |
|
0 |
|
|
|