MEIER-GORLIN SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
5 |
4
|
1998 |
2015 |
Bronchomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Microtia, third degree
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of external ear
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of mandible
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of breast
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Patellar aplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aplastic clavicle
|
phenotype |
|
Congenital Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Birth length less than 3rd percentile
|
phenotype |
|
Finding
|
21
|
13
|
0.100 |
None |
|
0 |
|
|
|
46, XY female
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Epispadias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic labia minora
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
High pitched voice
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small labia majora
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slender long bone
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of breast
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
|
|
|
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Hypertrophy of clitoris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
63
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
EAR, PATELLA, SHORT STATURE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
12
|
0.520 |
None |
1.000 |
4 |
|
2011 |
2017 |
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|