Absent palmar crease
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Camptodactyly of toe
|
disease |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Limited hip movement
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the humerus
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Narrow nasal ridge
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Ulnar deviation of the hand or of fingers of the hand
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Early severe fetal akinesia sequence
|
phenotype |
|
Finding
|
12
|
15
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2020 |
Primitive reflex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflexes (palmomental, snout, glabellar)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
15
|
3
|
0.740 |
strong |
1.000 |
5 |
3
|
2014 |
2019 |
Romberg's sign positive
|
phenotype |
|
Finding
|
15
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Bilateral talipes equinovarus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the rib cage
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Dimple chin
|
phenotype |
|
Anatomical Abnormality
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed fine motor development
|
phenotype |
|
Finding
|
19
|
13
|
0.100 |
None |
|
0 |
2
|
|
|
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Zollinger-Ellison syndrome
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Thoracolumbar scoliosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
17
|
0.100 |
None |
|
0 |
2
|
|
|
Cutaneous finger syndactyly
|
disease |
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Skin Pigmentation Disorder
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.170 |
None |
1.000 |
7 |
1
|
2013 |
2019 |
Sensory axonal neuropathy
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mild short stature
|
phenotype |
|
Finding
|
25
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Pseudohypoaldosteronism, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
42
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |