Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
1.000 |
12 |
|
2013 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.110 |
None |
1.000 |
12 |
1
|
2014 |
2019 |
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 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.150 |
None |
1.000 |
5 |
|
2014 |
2019 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
disease |
|
Disease or Syndrome
|
77
|
1
|
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 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
30
|
0.100 |
None |
1.000 |
4 |
6
|
2014 |
2017 |
Osteodystrophy
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
7
|
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
|
phenotype |
|
Finding
|
1
|
6
|
0.100 |
None |
1.000 |
4 |
6
|
2014 |
2017 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2016 |
Abnormality of the skull
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
11
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
Triphalangeal thumb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
56
|
15
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
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 |
Abnormality of digit
|
phenotype |
|
Anatomical Abnormality
|
9
|
9
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
1.000 |
2 |
8
|
2014 |
2014 |
Epileptic Syndromes
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
46
|
2
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
2 |
9
|
2014 |
2014 |
Progressive myoclonic epilepsy with dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2013 |
Auditory neuropathy spectrum disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
17
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |