Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
1 |
3
|
2012 |
2012 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Lacrimal Apparatus Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sensory hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Developmental absence of tooth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
41
|
15
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microcytic hypochromic anemia (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Excessive tearing
|
disease |
Eye Diseases
|
Disease or Syndrome
|
26
|
2
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Frontonasal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
8
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Tooth Agenesis, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
10
|
13
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Moderate global developmental delay
|
phenotype |
|
Finding
|
27
|
21
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
160
|
7
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|