Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the aryepiglottic fold
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Prenatal maternal abnormality
|
disease |
|
Anatomical Abnormality
|
23
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Laryngomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
67
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
Cataplexy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
36
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Umbilical hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
27
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Hydronephrosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
253
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
1
|
|
|
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
143
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.100 |
None |
|
0 |
1
|
|
|
Asymmetric crying face association
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent upper respiratory tract infection
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
52
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized Epilepsy and Paroxysmal Dyskinesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Upgaze palsy
|
disease |
|
Disease or Syndrome
|
7
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abducens Nerve Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Weak cry
|
phenotype |
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Increased bilirubin level (finding)
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
amniotic fluid meconium stained
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Increased axial length of the globe
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized joint laxity
|
phenotype |
|
Finding
|
44
|
6
|
0.100 |
None |
|
0 |
1
|
|
|