MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
limited |
1.000 |
2 |
1
|
2012 |
2015 |
Contractures of the large joints
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Atrial Flutter
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Macroorchidism
|
disease |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Protrusion of tongue
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Overfolded helix
|
phenotype |
|
Finding
|
46
|
7
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Tricuspid Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thymic Carcinoma
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
82
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Mitral Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
94
|
11
|
0.100 |
None |
|
0 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Mitral Valve Prolapse Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
29
|
0.100 |
None |
|
0 |
|
|
|
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|