Aplasia/Hypoplasia of the distal phalanx of the 5th toe
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic fifth fingernail
|
disease |
|
Anatomical Abnormality
|
11
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic fifth toenail
|
disease |
|
Anatomical Abnormality
|
12
|
4
|
0.100 |
None |
|
0 |
|
|
|
Patella aplasia-hypoplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lacrimation abnormality
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intervertebral disk
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Slow-growing hair
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hip bone
|
disease |
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ectopic kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the clavicle
|
disease |
|
Anatomical Abnormality
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Coffin-Siris syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
56
|
6
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bilateral single transverse palmar creases
|
phenotype |
|
Finding
|
65
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coxa valga
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
68
|
5
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cutis marmorata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
80
|
9
|
0.100 |
None |
|
0 |
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
91
|
9
|
0.100 |
None |
|
0 |
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|