Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
102
|
4
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2003 |
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
0.100 |
None |
|
0 |
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Retroviridae Infections
|
group |
Infections
|
Disease or Syndrome
|
112
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.400 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
139
|
9
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.400 |
None |
1.000 |
13 |
|
1994 |
2013 |
Hyperopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
142
|
29
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Protruding ear
|
phenotype |
|
Finding
|
152
|
6
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
1
|
|
|