EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.800 |
strong |
1.000 |
7 |
7
|
2010 |
2019 |
Epilepsy, Myoclonic, Infantile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
6
|
0.760 |
strong |
1.000 |
9 |
6
|
2010 |
2017 |
Digitorenocerebral Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
11
|
0.700 |
strong |
0.941 |
17 |
11
|
2010 |
2019 |
DEAFNESS, AUTOSOMAL DOMINANT 65
|
disease |
|
Disease or Syndrome
|
1
|
10
|
0.700 |
strong |
1.000 |
10 |
10
|
2014 |
2018 |
DEAFNESS, AUTOSOMAL RECESSIVE 86
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
strong |
1.000 |
6 |
5
|
2014 |
2018 |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
|
0 |
2
|
|
|
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.350 |
limited |
1.000 |
5 |
1
|
2014 |
2019 |
Progressive myoclonic epilepsy with dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2013 |
Deafness, congenital onychodystrophy, recessive form
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.190 |
None |
1.000 |
9 |
|
2010 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.180 |
None |
1.000 |
9 |
8
|
2014 |
2019 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
disease |
|
Disease or Syndrome
|
77
|
1
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2019 |
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2014 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2016 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.110 |
None |
1.000 |
12 |
1
|
2014 |
2019 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |