ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
43
|
0.720 |
strong |
1.000 |
86 |
43
|
1975 |
2018 |
Lubs X-linked mental retardation syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
8
|
0.800 |
strong |
1.000 |
31 |
8
|
1999 |
2019 |
Mental Retardation, X-Linked, Syndromic 13
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
27
|
0.700 |
strong |
1.000 |
17 |
27
|
1999 |
2018 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.500 |
strong |
0.917 |
12 |
9
|
2001 |
2014 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
1.000 |
definitive |
0.977 |
815 |
345
|
1975 |
2020 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.400 |
None |
0.993 |
141 |
|
2000 |
2020 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.500 |
None |
0.963 |
82 |
11
|
2000 |
2020 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.500 |
None |
0.919 |
62 |
3
|
2000 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.100 |
None |
1.000 |
55 |
|
2000 |
2020 |
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
|
0.200 |
None |
0.957 |
47 |
10
|
2000 |
2013 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.100 |
None |
1.000 |
42 |
|
2003 |
2020 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.100 |
None |
0.974 |
38 |
2
|
2002 |
2020 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.100 |
None |
0.935 |
31 |
2
|
2000 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.500 |
None |
0.923 |
26 |
11
|
2000 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.200 |
None |
1.000 |
22 |
1
|
2000 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.400 |
None |
0.818 |
22 |
9
|
2005 |
2020 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.400 |
None |
1.000 |
20 |
10
|
1993 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
20 |
4
|
1993 |
2016 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.110 |
None |
1.000 |
20 |
2
|
1993 |
2016 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
19 |
1
|
1993 |
2016 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.400 |
None |
1.000 |
16 |
1
|
2002 |
2019 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.500 |
None |
1.000 |
16 |
6
|
2008 |
2018 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.200 |
None |
1.000 |
15 |
2
|
2000 |
2018 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.190 |
None |
1.000 |
15 |
3
|
2000 |
2017 |
Neonatal encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
10
|
0.100 |
None |
1.000 |
13 |
|
2000 |
2020 |