Generalized hyperkeratosis
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Honeycomb palmoplantar keratoderma
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Low anterior hairline
|
phenotype |
|
Finding
|
71
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Stapes ankylosis
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent bacterial skin infections
|
phenotype |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
80
|
1
|
0.100 |
None |
|
0 |
|
|
|
Punctate keratitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Macule
|
phenotype |
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Leukonychia
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent erosion of cornea
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital omphalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
85
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Trichiasis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.100 |
None |
|
0 |
|
|
|
Horseshoe Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
51
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|