MPS III C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
38
|
0.800 |
None |
1.000 |
19 |
38
|
2006 |
2019 |
Mucopolysaccharidosis III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
15
|
0.800 |
None |
1.000 |
13 |
5
|
2006 |
2016 |
RETINITIS PIGMENTOSA 73
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.700 |
None |
1.000 |
11 |
13
|
2006 |
2016 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.420 |
None |
1.000 |
2 |
2
|
2015 |
2017 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.320 |
None |
1.000 |
2 |
|
2016 |
2018 |
MPS III D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
5
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
MPS III B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
92
|
0.300 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
1.000 |
2 |
3
|
2006 |
2009 |
Sleep Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
360
|
38
|
0.100 |
None |
|
0 |
|
|
|
Thick rib
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
1
|
|
|
Cranial hyperostosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
236
|
10
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent upper respiratory tract infection
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Inappropriate sexual behavior
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atrophic retina
|
disease |
Eye Diseases
|
Disease or Syndrome
|
24
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
1
|
|
|