Multiple Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
1.000 |
strong |
1.000 |
27 |
26
|
2003 |
2019 |
Sulfatidosis, Juvenile, Austin Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.800 |
strong |
1.000 |
3 |
|
2003 |
2007 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Large forehead
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF protein
|
phenotype |
|
Finding
|
26
|
1
|
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 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Peripheral demyelination
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Periorbital Edema, CTCAE
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Rapid neurologic deterioration
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Mucopolysacchariduria
|
phenotype |
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|