Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperekplexia and Epilepsy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
10
|
0.710 |
None |
1.000 |
10 |
9
|
2004 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.060 |
None |
1.000 |
6 |
|
2009 |
2018 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.320 |
None |
1.000 |
3 |
|
2008 |
2011 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
140
|
5
|
0.100 |
None |
|
0 |
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Exaggerated startle response
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized tonic seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
EEG with temporal focal spikes
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.070 |
None |
1.000 |
7 |
|
2008 |
2018 |
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 |
|
2008 |
2011 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2019 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
2 |
|
2011 |
2011 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |