Phrynoderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slender finger
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|
Recurrent lower respiratory tract infection
|
phenotype |
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Long toe
|
phenotype |
|
Finding
|
24
|
8
|
0.100 |
None |
|
0 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
|
|
|
Writer's Cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dystonia, Paroxysmal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
28
|
4
|
0.300 |
None |
|
0 |
|
|
|
Progressive proximal muscle weakness
|
phenotype |
|
Finding
|
28
|
3
|
0.100 |
None |
|
0 |
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Keratosis pilaris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
30
|
4
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dermatofibrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal palate morphology
|
disease |
|
Finding
|
40
|
2
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.400 |
None |
|
0 |
|
|
|
Type 1 muscle fiber predominance
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
|
disease |
Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
45
|
9
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Coronary Microvascular Disease
|
disease |
|
Disease or Syndrome
|
45
|
3
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adamantinous Craniopharyngioma
|
disease |
Neoplasms
|
Neoplastic Process
|
48
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Increased variability in muscle fiber diameter
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|