Dense calvaria
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Fecal Incontinence
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
60
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal dysmotility
|
phenotype |
|
Finding
|
28
|
13
|
0.100 |
None |
|
0 |
2
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
88
|
17
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
2
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
1
|
|
|
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
3
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
1
|
|
|
Heparan sulfate excretion in urine
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
beta-Mannosidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
13
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Multiple Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neurodegeneration with brain iron accumulation (NBIA)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Degenerative disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
160
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
Pigmentary retinopathy
|
disease |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
CNS disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
319
|
11
|
0.010 |
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
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alcohol or Other Drugs use
|
disease |
|
Mental or Behavioral Dysfunction
|
108
|
21
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |